Annals of the Royal College of Surgeons of England
(i976) tol 58
Uterovaginal agenesis E A Williams
FRCS FRCOG
(oionsultanit Obstetrician and G1vnaecologist, United Oxford Hos pitals
Summary Experience in the diagnosis and treatment of certain developmental anomalies of the reproductive tract is described, with particular reference to uterorauinal agenesis and the operation of vulravaginatplasty. Introduction Elizabeth the First never married, yet there were many pressures on her to do so. Even when she was 45 the good Lord Burghley prayed that she wvotuld take a husband and bear a child. Scholars have tended to believe that Elizabeth did not marry because she always judged it wouild be politically unwise, but the Quieen's ever-contintuing reluctance has also suggested that she could take no pleasure in the intimacies of marriage, perhaps becatuse of some disorder of psychosexual function. Certain physicians who, attended the Queen held that if she married she would bear children; one indicated that Io was a likely number1. These were the mere opinions of men who, in that age, were not competent to decide such a matter. Elizabeth foretold that she herself would be barren, which must argue that she knew she wouild never marry or that she knew of a disability that precluded childbearing2. Of her succession Elizabeth said, 'They were fooles that did not know that the lyne of Scotland must needes be next heires, but for all that nobodie dares ever sooth her when she saith it". In acnimoniouis corrcspondence the Scottish quieen tauinted Elizabeth of her imperfection. There were other rumours, nerhaps mere gossip. Thtus Ben Jonson confided to William Drtummond of Hawthornclen 'that she had a membrana upon her which made her uncapable of man, though for her delight she had tryed many'4. There mav be support for this in Elizabeth's enigmatic remark to Lord Sussex that she would never marrv for a reason that she couild not tell even to, a twin
solul5. Hunterian Lecture delivered at Oxford
on
Elizabeth's godson, Sir John Harington, 'did not printe nor publishe what he knew of a great secret of State', but he wrote in his diary what he hoped to publish later 'if he lyved to it' and when it would no longer be treasonable 'though in mynde Elizabeth hath ever an aversion and in body some indisposition to the act of marriage, yet hath she ever made showe of affection to some men . favourites . . . to hyde that debility enduring rather to run into some obloquie among straungers of a fault which she could not committ than to be suspected to want anything that belongs to the perfection of a faire ladie". Harington's disclosure is not to be dismissed lightly. His authority derives from his mother, Isabella Markham Harington, who at one time shared Elizabeth's imprisonment in the Tower and was of the Queen's privy chamber until the 2oth year of her reign. It was also rumoured that when the Duke of Aleneon came to England, he brought with him a French surgeon, 'but the intention that he should operate on the Queen was thwarted by her fear and by his death'4.
Even today, when there is scarcely anything under the sun that is not talked about, when so much is remediable, a few are silent about the genital defonrmity which so unhappily sets them apart. Elizabeth, Gloriana, of Royal Estate, was she perhaps more cruelly set apart and made less than lesser women by a disability which she was careful to conceal and of which she made no complaint? Cryptic and clever, stoical, resourceful, and withal unfailing in her love for England, she turned a queen's disadvantage to the nation's gain, and thus a feeble woman discovered in herself 'the heart and stomach of a king and of a King of England too'6. We may muse upon it. The mystery remains and I must move to firmer ground if I am to have yvour continued attention.
25th April 1975
Uterovaginal agenesis
Genital anomalies It is our delight that John Hunter's genius enabled him to make accurate observations upon which he exactly shaped his notable opinions. Yet he was capable of exaggeration in at least one respect, for the man who later recorded how both a hen pheasant and Lady Tynte's pea hen were transformed from their drab female state to the splendours of maleness claimed that the dons at Oxford wished to stuff him with Greek and Latin, thus to make of him an old woman7. Wisely and prudently young John Hunter left Oxford for London, where in due course he grew a beard. In the world's greatest metropolis the country boy, the naturalist, 'freed from the imprisonment of books,' asserted his originality and came to the greatest distinction, contributing vastly to surgical science. In Htunter's writing there is much that deals with anomalies of the genitalia. His description of the 'free martin' is particularly notable and it is clear that Hunter recognized its variabilitys. More than this, Hunter was aware of the gradation among animals from sexual normality to the classical hermaphrodite state. Pondering on the trick of nature that produced these curious distortions, it is unlikely that he would have left the matter, perhaps reflecting that divine providence had ordained it so. He would have sought more proximate causes. In this present time Hunter would have been quick to get to grips with the minutiae of celluilar anatomy and to perceive the importance of the chromosomes in the reproductive processes. He would have been excited by Barr and Bertram's description of the sex-specific intranuclear nodule in the tissue cells9. He would have weighed the Lyon hypothesis rezarding the seauestered X chromosome, aporeciatinZ its merits and noting its deficiencies". Hunter would have approved the contributions of Tjio and Levant", whose technique enabled the chromosomes in man to be counted, for karvotype determination has promoted the clinician's understanding of many sexual anomalies that were formerly merely bizarre and quite incomprehensible. In this lecture I wish to report on a series of patients who were referred because of some anomaly of the genitalia that imposed serious sexual disability. Fifty-two had neither uterus nor vagina. Four had functioning uteri but
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no apparent vaginal development. Three with female karyotypes were virilized and 6 with male karyotypes were feminized. Patients with so-called 'imperforate hymen', which yields to simple incision, were excluded. In passing I shall refer to 1 2 women disabled by Wertheim's hysterectomy and to 3 men who had undergone sex-changing operations elsewhere. If the personality is to develop easily and successfully, then the sex assigned at birth must be accepted naturally and without reserve. The greater number of my patients had no problem in this respect, but it was judged that the 3 men who had undergone a sexchanging operation experienced harrowing doubts and continuing humiliations which profoundly clouded their lives. Nor was it evident to me that their state after surgery was happier than before. Indeed, one who had generally enthused about sex-reversal operations confided in a moment of truth that his self-inflicted castration had totally removed all libido and had led to profound depression. It had been a further severe shock to learn that even when surgery was completed the law did not recognize that his sex had been in anv way altered, and finally he had realized with bitterness that if once he had been male he was now certainly not female. When a patient with an anomalous state of the genitalia presents, the diagnosis must be made precisely and the disability assessed so that surgery can be undertaken to restore the fullest useful function. The natient with a major genital abnom-ality becomes aware of it rather gradually, which mitigates distress, but it would be impossible to have the care of any number of these patients without knowing something of the dismay and anxiety that they suffer and that may be greatly exacerbated at times of personal crisis. Fortunately, when disclosing the nature of the abnormality, the surgeon has the opportunity to encourage the patient in the most practical way by offering appropriate surgery and the prospect of living a nearnormal life thereafter.
Uterovaginal agenesis In the past i i years I have been responsible for the care of 52 patients with uterovaginal
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agenesis, but the prevalence of this condition in the community is not known. There could be merit in the establishment of a register, perhaps under the aegis of the Royal College of Obstetricians and Gynaecologists, enabling Fellows and Members and others to submit information, but the considerable difficulties are appreciated. Nowadays uterovaginal agenesis is the preferred term. There is little to be said in favour of eponymy. It does not increase our understanding of the condition to refer to the Rokitansky-Kuster-Hausser syndrome'2. Rather than this I would prefer the old and common English usage, congenital absence of the vagina. Imprecise it may be, but at least it emphasizes the nature of the principal disability and indicates the problem that must be set right. The patient with uterovaginal agenesis has the normal female karyotype, 46 XX, and is entirely female in other respects. The abnormality is caused by a failure of organizer genes at a crucial time in embryonic life so that the caudal Miillerian ducts do not fuse and canalize. Consequently the uterus and vagina fail to develop, but the ovaries, fallopian tubes, and uterine ligaments are normally developed. Deriving from this genetic fault there may be a wider field effect. Howkins" has noted that as many as 30%/O of these patients have abnormalities of the renal tract and that 5 % have minor abnormalities of the vertebrae. I wish to stress a point that has received less attention-that the very pelvic floor shows evidence of hypoplasia in some io% of patients. Thus in my series there were 2 patients with notably patulous urethras, 2 had anal agenesis, and 2 developed enterocele. Moreover, this weakness of the pelvic floor has bee-n confirmed at dissection, for in some the tissues of the perineum and particularly of the potential vaginal space are extremely tenuous, yielding to the lightest pressure. Herein perhaps is the explanation of the ease with which a few patients have developed a vagina in response to coital efforts or continued local pressure, and in part it may explain the success of vulvavaginaplasty, which I shall describe presently. Lischke and his colleagues'4 claimed that uterovaginal agenesis had been found in one twArin only in a small series of identical twins.
This lack of concordance would suggest that no overriding inherited factor is operative, but Jones in 1973"O challenged this view by reporting the condition with a notable frequency in a particular family. There are no confirmatory reports. It is agreed that a familial incidence is not generally found in patients who have uterovaginal agenesis. The condition seems to depend on multiple factors, perhaps in women who are genetically predisposed. However, in the testicular feminizing syndrome, which has considerable clinical similarity, an increased incidence within kinship is evidence of an inherited genetic disorder transmitted by carrier females, half of whose sons are normal while half present with testicular feminizing syndrome. Dewhurst'6 has suggested that it should be called the androgen insensitivity syndrome.
Uterovaginal agenesis is Diagnosis rarely diagnosed before puberty. Even today, when the newborn are examined closely, there is no routine probing to to prove the existence of the vagina, nor would it be sensible to do this, for 'where ignorance is bliss 'tis folly to be wise', and it is to the patient's best advantage that she should enjoy a normal childhood. In due course, at puberty, all the expected secondary sexual characters develop. Still there is no suspicion of abnormality until persistent amenorrhoea arouses concern. The family doctor may reassure or prescribe cyclical oestrogens, and gynaecologists of considerable experience have sometimes followed this line, but the treatment must necessarily fail, for there is no endometrium to respond. Nowadays there is little excuse for failing to make a correct diagnosis, provided the history is considered and a sufficient examination is made. Tact and gentleness are necessary; almost always the matter can be decided in the consulting room. The vulva appears normal even when examined closely. The development of the hymen is variable. It may be fleshy, seeming to conceal a normal vagina, or it may be aggregated at a particular point, perhaps near the urethra, and a vaginal dimple may be conspicuous and complete, plainly indicating vaginal agenesis. The urethra is generally normal, but exceptionally it may be wide and it may have been made wider by attempts at coitus. It may
Uterovaginal agenesis admit I or 2 fingers and yet the patient is substantially continent of urine. I want to draw attention to the findings on rectal examination, for it is not generally realized that, when the uterus has failed to develop, a characteristic sign can be elicited. If the examining finger is introduced gently and far enough it is possible to identify the uterosacral ligaments, to hook the terminal phalanx over them, and to trace them continuously from one side of the pelvis to the other in front of the rectum because there is no midline development of the uterus or cervix. Thus a very shrewd idea of the matter can be gained by a simple digital rectal examination. Sometimes anaesthesia is necessary for a complete examination to be made. Then there is nowadays the opportunity for laparoscopy, which quite rightly has almost completely replaced the traumatic laparotomy that was often inflicted rather needlessly on these patients in former days. At laparoscopy it will be confirmed that there is no midline development of the uterus but that rudimentary, non-functioning hemiuteri, consisting of small masses of muscular tissue, are placed rather far laterally in the pelvis. The round ligaments, fallopian tubes, and ovaries are normal and in normal relationship to these uterine rudiments. The uterosacral ligaments are prominent and continuous in the midline and the pouch of Douglas is normal. The ovaries exhibit follicles in all stages of development and corpora lutea may be present, with ovaries cycling normally, a fact well shown by biphasic temperature charts. There is little point in steroid assay. Indeed, the patient's very feminine nature depends on normal ovarian function. It may not be too futuristic to reflect that a normal ovum is available for the taking. This could be fertilized by the husband's semen and possibly grown in a host uterus.
I wish to stress that basically a good history and a careful physical examination, perhaps with a laparoscopy, supported by the essential karyotype determination, enable the surgeon to make a diagnosis. He must tell the patient about it in terms she can understand and the necessary surgery must be undertaken at the optimum time.
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A few patients Vaginal enterocele have developed a considerable vagina in consequence of coital effort or continued local pressure may not require surgical asistance. In this series there was one patient aged i 8. She developed a vagina in this way and all seemed well after initial marriage
who
difficulties. Two years later the patient developed dyspareunia and a lump appeared at the vulva when she stood. This was a vaginal enterocele, containing loops of gut. Considerable surgery was necessary to oblate the enterocele and finally I performed vulvavaginaplasty successfully. Another patient upon whom I performed vulvavaginaplasty found the operation completely successful. She developed increasingly an axial pelvic vagina, but soon all the signs of enterocele were present on clinical examination. Yet the patient complained of no discomfort, but I expect that as time passes she will become increasingly conscious of the bulge. Thompson'7 reported the development of an enterocele after McIndoe's operation and described the elaborate repair that was necessary to correct the symptoms which it provoked. Thus we have knowledge of three patients with vaginal enterocele: one that developed spontaneously, a second in consequence of vulvavaginaplasty, and a third after McIndoe's operation. It seems that vaginal enterocele may come about when the vaginal mucosa is brought into close proximity to the pelvic peritoneum and when the fascia and muscle are insufficient to support the pressure gradient across the vaginal vault, and it is my contention that patients with uterovaginal agenesis are prone to deficiencies in muscular and fascial tissue and are therefore predisposed to the development of vaginal enterocele.
Vulvavaginaplasty Since 1938 McIndoe's operation'8 has held pride of place in the the Western world and has been preferred over all other methods of dealing with uterovaginal agenesis. The operation is not difficult to perform but it requires of the patient considerable fortitude. Usually it is not carried out until marriage is imminent, and herein may be a disadvantage. In the short term there is a liability to persistent vaginal granulations and occasionally to fistula. In the long term
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there is a liability to vaginal contracture. The use of soft moulds and suprapubic bladder catheterization have been substantial recent improvements. McIndoe's operation is absolutely indicated if the urethra is wide, with a risk of its further dilatation by coitus. This operation may also be necessary if the vulva is hypoplastic. When there is no menstruum to discharge, granted that the vulva is normally developed, I have generally preferred vulvavaginaplasty and I made an initial report in I964 of this operation which had then been used successfully on 3 patients'9. The first of these patients had suffered very severe vaginal stenosis after surgery. It was my original intention to perform a Mclndoe's operation with the generous assistance of my colleague, the late Emlyn Lewis, but I saw a simpler solution in the operation that is now generally known as vulvavaginaplasty. It worked well. The patient assured me that it had resolved intolerable marriage stress. It was therefore natural to use this simple operation for 2 young women with classical uterovaginal agenesis, and again it was successful. Thus it was established at an early stage that vulvavaginaplasty was simple and almost without risk and that it allowed easy recovery. It had the advantage that it could be performed as soon as the patient showed evidence of maturity, ideally at about i8 years of age, for there is no later liability to contracture. The operation promotes the young woman's self-confidence in the critical years when doubt and uncertainty concerning marriage prospects may precipitate anxiety and a personality disorder. Vulvavaginaplasty has been performed 52 times for uterovaginal agenesis. In one patient only was it not successful. This patient had a wide urethra and after vulvavaginaplasty there was evidence that her urethra was being stretched and made wider by coitus. I believe that if the urethra is patulous vulvavaginaplasty is contraindicated and Mclndoe's operation is more likely to give a satisfactory result. Vulvavaginaplasty can be performed after the McIndoe operation has failed owing to stenosis or fistula and was carried out on 4 such patients with complete success. The successive stages of vulvavaginaplasty are shown in Figures i-6. Preparation is exactly as for colporrhaphy. The patient is placed
in the lithotomy position. The labia majora and fourchette are infiltrated with 30 ml of a 1:200 000 solution of noradrenaline in physiological saline. The labia are seized lightly witlh Allis's tissue forceps and are distracted laterally so that their inner aspects are revealed to their greatest practicable extent. An incision is made splitting the fourchette and extending forward just within the hair line on each side of the vulva to a point in advance of the urethral orifice and some 4 cm lateral to it. This horseshoe-shaped incision is deepened until the bulbus spongiosus and perineai muscles are revealed to their greatest extent. When the dissection has been completed the inner skin margins are joined together progressively from the perineum forwards with No oo chromicized catgut sutures tied so that the knots lie within the lumen of the newly built vaginal tube. The bulbus spongiosus tissues are united in support of this and likewise adjacent connective tissue is drawn in to secure the maximum thickness and support. The external skin is closed with nylon stitches. If the operation has been properly contrived it will now be possible to insert 2 fingers into the newly created vagina. A plastic indwelling catheter inserted into the bladder at the outset of the operation should be supported to prevent its resting against the vaginal suture line. After the operation the patient should be confined to bed for a week, the bladder being drained continuously into a closed system. It is wise to give a sulphonamide to prevent urinary infection. The wound should be kept dry. Local radiant heat may provide comfort. If the patient is young it is permissible to hobble her with a bandage about the thighs so that they cannot be separated excessively, thus removing tension from the suture line. The stitches are removed in about 7 days. The patient is not examined vaginally until 6 weeks have passed, when all the soreness will have disappeared and there should be firm union of the tissues. It will be found that dilators size 5, 6, and 7 can be used progressively and that the vagina is of sufficient proportions to allow intercourse. The surgeon will encourage his patient's independence, though he must be available for consultation. The success of vaginaplasty hinges on the appropriation of
Uterovaginal
agenesis
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vaginal compartment, even if it is very small. Reflecting on these matters I have realized that the cervix lined by a mucosa that secretes plentifully prevents coagulation of the menstruum, contributes to the bulk of the menstruum, and allows its easy discharge. This is a function of the cervix that has not been generally appreciated, although it is well known that extensive coning of the cervix not infrequently leads to stenosis and menstrual retention. When a patient has a menstruating uterus, a well-formed cervix, and even a small natuiral upper vaginal compartment, then McTndoe's operation can be performed and is likely to be successful. It permits normal menstruation and, under favourable conditions, may lead to pregnancy, but if the cervix is illformed it is not so easy to convey the menstrutum externally. If a passage is prepared through a fibrous cervix and then lined with split skin, stenosis is likely and the menstruum will be retained. At least in theory, however, if such a passage through the cervix could be lined with a mucus-secreting epithelium it would perhaps be successful. I have not attempted stuch an operation. The favourable state which Jeffcoate indicates is not invariably present. Two patients in my series presented formidable problems and suffered considerable discomfort. In the end merit of simplicity. both came to hysterectomy because attempts to convey the menstruum externally were Vaginal aplasia In a different category and potentially more unsuccessful. One of these patients, aged I6 difficult to treat are patients with functioning years, first attended my colleague Mr Wheeler, uteri but with vaginal aplasia of varying at Reading. She had vaginal agenesis. Wheeler degrees. There were 4 such patients in my series. When the upper vagina is present, then there is a chamber in which the menstruum Technique of vulvavaginaplasty. (I) Patient accumulates. This is a favourable state and the draped and catheterized; vaginal dimple is risk of haematometra, haematosalpinx, and conspicuous but shallow. (2) Proposed incision haematoperitoneum is reduced, at least for marked. (3) Initial incision. (4)Incision deepsome time. Moreover, the condition can be ened; inner margins sutured with catgut stitches relieved simply by advancement of the vagina to form a vaginal tube. (5) Vaginal tube completed; glass obturator in position to check as described by Jeffcoate20. Two of my patients fitted exactly into this category. They have for size; the perineal muscles are joined with married; one has been delivered and the second sutures. (6) Skin has been closed with nylon is pregnant at this tirne. Jeff coate held that if sutures. (7) A two-finger vaginal examination the uterus menstruated, then the cervix was is made and should not be difficult if the conalways present, together with a vaginal com- struction has been properly planned. (8) Operpartment, which could be very small. Certain- ation completed; this vaginal obturator can be passed. Over the next months the vagina will ly if the external cervical os and portio vaginalis of the cervix are present there clearly must be a develop axially in response to coitus or dilators.
suifficient skin to line the new vagina. This is the reason why the initial mucosal incisions are made as near the hair line as possible and some from the midline, thus providing ample 4 mucosa to line a vagina about 3 cm in diameter and capable of stretching. After vulvavaginaplasty the patient finds no problem in micturating, seemingly because the vulval skin has wet-resisting properties. Furthermore, it has a self-cleansing quality, a point made familiar, for example, in the way that menstrual blood is dispersed from a normal vagina at the end of a period. Some patients mav find it convenient to use a lubricating jelly before coitus, but this is not always necessary, for Bartholin's glands may function sufficiently. It has been suggested that the vagina nroduced by this operation is ill-placed, but natients have not found this to cause difficulty. In normal women the vagina is necessarily a passage from the tuterus to the exterior and its axial position depends on this. When there is no menstruum to disperse and when conception is impossible there would seem to be no valid objection to its being placed farther forwards. Increased experience of vulvavaginaplasty has confirmed my opinion of its usefulness and it has been taken up increasingly by other surgeons, who perceive that it has the cm
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perfonned a left salpingo-o6phorectomy because this appendage had been converted into a bloody cyst by menstrual accumulation. She was referred to Oxford. Menstruation was suppressed with progestogens, which relieved her of dysmenorrhoea. Despite my reservations the patient, with whom the possibilities had been discussed, elected that Mclndoe's inlay vagina should be constructed and that it should be brought into communication with her endometrial cavity. The dissection from below was extraordinarily easy, but the uterus could not be reached as it seemed to move progressively cephalwards. My colleague Mr Batstone very skilfully cut a split skin graft and we implanted this on a soft mould. The take was excellent and a very commodious vagina resulted. Three months later, since the uterus was not accessible from below, laparotomy was performed. The uterus was found to be small and placed anteriorly in the pelvis. The bladder was carefullv mobilized and pushed down from the front of the uterus. The cervix, in my opinion. was scarcely present and the total length of the uterus from fundus to the lowest identifiable tissue was a mere 3 cm. An incision was made into the cavity of the uterus. A small endometrial cavity about I.5 cm in length was discovered. It appeared to terminate below in a bifid manner. Very carefully the uterus was totally removed. Only a rudimentary bifid cervix existed and there was no evidence of a cervical canal. Histological examination confirmed adenomyosis uteri, but there was no recognizable cervical tissue. Although disappointed, the patient accepted that hysterectomy was to her best advantage since it had not proved possible to make an effective passage between the endometrial cavity and the new vagina. Hvsterectomy had removed the risks of haematometra and haematosalpinx, and the risk of damage to her remaininm ovarv had been averted by removing a rather useless uterus. Another patient, aged 24. had been treated bv McTndoe's operation at the age of I7. A passage had been constructed from the endometrial cavity to the vagina in the hope that she would menstruate, but recurrent stenosis caused dysmenorrhoea and her menstruum was only slowly discharged, particulate and flaky on most davs of her cycle. The need for periodic dilatation, with occasional episodes of
sepsis, had made her life a misery. Stenosis and scarring in the vagina caused severe dyspareunia. When she came into my care it was possible with the finest probe, a mere nylon thread, to find a track from the vagina to the uterus. Realizing that it was not possible to make an adequate passage, I performed hysterectomy and conserved her right ovary. Extensive adhesions had disorganized the fallopian tubes. There was no free peritoneal space in the pelvic cavity and in reality there had been no prospect that she would conceive. Fibrotic and tender scars in her vagina were excised and vulvavaginaplasty was performed. She is now happy and comfortable and expects to marry, realizing that she cannot bear children. Her invalidism has been totally relieved.
Virilizing syndromes There were 3 patients in my series who had normal female karyotypes of 46XX but were considerably virilized, with fusion of the vulva. One of these, a baby girl, presented with marked clitoral hypertrophy. The vulva was grossly fused. It was shown by radiographv that she had a persistent urogenital sinus that opened ventrally at the base of her clitoris and communicated dorsally with her urethra and vagina. Surgery consisted first in laying open the fusion so that the urogenital sinus was displayed in its full length; its mucosal edges were then united to the labial skin, establishing a near-normal vulva. Secondly, the shaft of the clitoris was shortened and the glans sutured to its base. It is prooosed that at about puberty the vagina should be brought down to the vulva in the normal relationship, although the present sinus would allow the menstruum to escape. This condition was certainly caused by the mother's takinZ testosterone throughout her pregnancy. It had been prescribed to reduce the risk of abortion. The second girl had a simPle fusion deformity. No cause was determined. A Persistent urogenital sinus was laid open at 5 years of age to give her a normal vulva. At the age of i I the small sinus that led to her vagina was incised and her vagina was brought down properly to the vulva by a modified Fenton's operation to restore normal anatomy. These 2 girls had normal oxy- and hydroxyketoster-
Uterovaginal agenesis
oids and the second showed normal levels of oestrogens during her cycle at puberty and now menstniates. The third patient in this group, severely diabetic, was aged i6 and considered by her gynaecologist to have menstrual potential but no vagina. Laparoscopy had revealed a normal uterus with ovaries and fallopian tubes. Externally she showed severe fusion deformity with an opening at the base of the clitoris. In anticipation that retention of the menses would have an adverse effect, she was transferred to Oxford for investigation and construction of a vagina. By this time she had, on two occasions, seen blood in her urine. Simple clinical examination and radiography showed a persistent urogenital sinus and a normal vagina. The necessary suirgery was simple and immediately effective. The operation could be termed vulvalysis. The patient showed a marked diabetic retinopathy, and trophic changes were noted in the skin over her heels.
Testicular feminizing syndrome Six patients with male karyotypes, 46XY, had essentially normal female external genitalia, except for one who had fusion of the vulva and a persistent urogenital sinus. Two of these patients had clinical diabetes. In no patient had the uterus developed and in all the vagina ended blindly. Three patients came to puberty with breast development, but axillarv and pubic hair was virtually absent. They fitted easily into the category of testicular feminizing syndrome as described by Morris21. The gonad, a testis, had suppressed Miillerian development substantially but had not promoted normal male development. Dewhurst'" considers that the syndrome would be more accurately described if it were called the androgen end organ insensitivity syndrome. I believe that 2 more of my patients would have shown classical development of testicular feminizing syndrome except that gonadectomy in childhood and before puberty, performed at the time of herniorrhauhy, had caused them to be eunuchoid and their vulvas remained immature.
Patients with testicular feminizing svndromwho have very short vaoinas are narticularly suitable for vulvavaQinanlasty, which secures an excellent result. Tt was performed on 3
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patients, including the 2 whose development had been affected by gonadectomy. The sixth patient, with vulva fusion, did not fit exactly into the category of testicular feminizing syndrome, but when the fused tissues had been divided and this evidence of a masculinizing process was removed it was not difficult to think of her in such terms, although a rather considerable growth of hair at the vulva was evidence that the tissues were not totally insensitive to androgens. Of these 6 patients with male karyotypes, 4 have married and the remaining 2 hope to marry. Nurtured as females but incompletely feminine, without male attributes, with gonads secreting oestrogens and androgens, they function entirely as women except that they cannot bear children, and the curiousness of their condition interests the doctors more than it concerns the patient.
Consequences of sex-change operations Of the 3 men who, at other centres, had undergone operations to change their sex, one, who had suffered self-castration, later had an operation to amputate his penis, the scrotum was split and reduced to constitute labia majora, and a McTndoe vagina was constructed. This became grossly stenosed. I performed an operation along the lines of vulvavaginaplasty using the limited scrotal labial tissues. The advantage was cosmetic rather than functional and in fact rather completely met the needs of this patient who, without libido, enjoys chiefly to be socially a woman-to wear pretty clothes and swimming suits that emphasize the elegance of her figure. She has acquired a pleasant contralto speakine voice, but when recovering from anaesthesia her complaints were uttered grufflv in tones and terms that had been acquired in former days when serving in the Roval Navy. The second patient had undergone castration and penile amputation and the scrotuim had been invaginated to make a vagina. It was not satisfactory because it tended to be pendulous and insufficiently anchored to allow coitus; it retained urine and became offensive, for scrotal skin has no water-renelling properties. Some improvement was obtained by anchoring the scrotal vagina forwards by excising ellipses of skin in the anteroposterior direc-
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tion and closing them in the coronal plane. Daily use of a water-repelling cream materiallv improved the unpleasant state that had been caused by retained urine. The third patient, aged 22, sought a sexchange operation at Oxford. When he was examined it was found that the breasts were grossly distorted and hardened so that they resembled scirrhous carcinoma. This was in consequence of the injection of wax into the mammary tissues which had been carried out in Hong Kong. The patient was already taking large doses of oestrogens but had not submitted to surgery for sex reversal. The serious effects of his proposal were pointed out to him, but he still insisted on surgical assistance and an arrangement was made whereby he consulted an Oxford psychiatrist. Over the course of a month or so it was proposed that his state should be considered and assessed, but he became impatient and presented himself in another city, which Shelley described as 'smokey and very populous'. Within a day or two penile amputation and castration were effected and some form of plastic operation was undertaken to provide a vagina. The healing processes totally failed and he became suicidally depressed. He ran out of funds and his 'lover' (if that is the term) left him. Thus in the sad story of one patient can be seen many of the difficulties and disappointments that attend these unfortunates.
ensure a successful sexual life. In this group of I2 women the results were best in 4 who were under 30 years of age. This is not surprising. England's philosopher poets have proclaimed the advantages of youth, yet today an increasing number, leaving youth behind, come to the frustrations of old age. It will not be surprising that 3 women over 50 found that the results of vulvavaginaplasty were disappointing, although they insisted that the provision of a vagina had been a step that had helped them in coming to terms with a difficult situation, expressed rather characteristically in the phrase 'my husband doesn't really mind; what chiefly matters to him is that I should be well'.
Conclusion This is the sum of my experience of conditions that are uncommon, even in gynaecological practice. I am indebted to many colleagues who sent their patients to me. The need to encourage and reassure the patient transcends everything else. The surgical rule is simply to promote and restore realizable function and to avoid unnecessary complexity. It is for this reason that I have promoted vulvavaginaplasty. It is simple, it is safe, and it works. I wish to acknowledge the help of Drs Stephenson, Bobrow, and Lindenbaum from the Population Genetics Laboratory at Oxford and the help and friendly interest of Mr Tom Patterson and Mr John Batstone. My old friend Dr J V Mitchell has anaesthetized the majority of these patients and I am particularly indebted to him. I wish to acknowledge the invaluable help of my registrars and housemen and particularly to thank the nursing staff who have done so much to keep the patients cheerful and comfortable. Finally I wish to thank the President and Council of the Royal College of Surgeons for the invitation to give this lecture in honour of John Hunter. The illustrations are reproduced from Recent Advances in Gynaecology, Vol IV (I975) by kind permission of the publishers, Grune and Stratton Inc., New York.
Consequences of Wertheim's hysterectomy Twelve women disabled by Wertheim's hysterectomy and vaginectomy submitted to vulvavaginaplasty. To mitigate the effects of o6phorectomy they were given stilboestrol up to I5 mg a day. Vulvavaginaplasty has much to offer in this situation, for cervical cancer now increasingly assails women in the younger age groups. That there should be a vagina adequate for coitus is necessary if marriage is to be complete. Erotic inclination requires a sufficient level of circulating sex hornones so that References when conditions are suitable there is mental I Neale, Sir J E (I934) Queen Elizabeth, pp 220, 239, 240, 244. London, Jonathan Cape. excitement that enables sexual activity to be Sir J (I922) Memoirs of His Own Life, initiated and ensures that the tarzet organs are 2 pMelville, Abbey Classics Edition. Lorndon, 77. able to respond with orgasm. If this view is 3 Markham, C R (ed) (i 88o) A Tract on the accepted it will be apparent that the mere Succession to the Crown I602, p 40. London, Roxburghe Club. provision of a vagina, valuable as it is, does not
Utero vaginal agenesis 4 Patterson, R F (ed) (1923) Ben Jonson's Conversation with William Drummond of Hawthornden, p 15. London, Blackie. -5 Strachey, L (1948) Elizabeth and Essex, p 23. London, Chatto and Windus. 6 Churchill, W S (I964) The Island Race. London, Cassell. 7 Palmer, J F (ed) (i 835) The Works of John Hunter, vol. i, p I4. London, Langham, Rees, Orme, Brown, Green and Longman. '8 Palmer, J F (ed) (i 835) The Works of John Hunter, vol. 4, pp 34, 44 and 49. London, Langham, Rees, Orme, Brown, Green and Longman. 9 Barr, M L, and Bertram, E G (I 949) Nature, 163, 674. iO Lyon, M F (I96I) Nature, I90, 372. ii Tjio, J H, and Levan, A (1956) Heritas, 42, I. 12 Jones, H W, and Mermut, S (1972) American Journal of Obstetrics and Gynecology, II4, IIOO. I3 Howkins, J (i968) Shaw's Textbook of Operative Gynaecological Surgery, 3rd edn, p 146. Edinburgh and London, Livingstone.
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14 Lischke, J H, Curtis, C H, and Lamb, E J (I973) Obstetrics and Gynecology, 41, 920. I5 Jones, H W, and Mermut, S (1972) American Journal of Obstetrics and Gynecology, II4, II00. I6 Dewhurst, C J (1972) Integrated Obstetrics and Gynaecology for Postgraduates. Oxford, Blackwell Scientific. 17 Thompson, J D (I970) Communication at Sixth World Congress of Obstetrics and Gynecology. i8 Mclndoe, A H, and Bannister, J B (1938) Journal of Obstetrics and Gynaecology of the British Commonwealth, 45, 450. I9 Williams, E A (I964) Journal of Obstetrics and Gynaecology of the British Commonwealth, 71, 5''.
20 Jeffcoate, T N A (I969) Journal of Obstetrics and Gynaecology of the British Commonwealth, 76, 96I. 21 Morris, J McL (I953) American Journal of Obstetrics and Gynecology, 65, II92.
(i976) tol 58
Uterovaginal agenesis E A Williams
FRCS FRCOG
(oionsultanit Obstetrician and G1vnaecologist, United Oxford Hos pitals
Summary Experience in the diagnosis and treatment of certain developmental anomalies of the reproductive tract is described, with particular reference to uterorauinal agenesis and the operation of vulravaginatplasty. Introduction Elizabeth the First never married, yet there were many pressures on her to do so. Even when she was 45 the good Lord Burghley prayed that she wvotuld take a husband and bear a child. Scholars have tended to believe that Elizabeth did not marry because she always judged it wouild be politically unwise, but the Quieen's ever-contintuing reluctance has also suggested that she could take no pleasure in the intimacies of marriage, perhaps becatuse of some disorder of psychosexual function. Certain physicians who, attended the Queen held that if she married she would bear children; one indicated that Io was a likely number1. These were the mere opinions of men who, in that age, were not competent to decide such a matter. Elizabeth foretold that she herself would be barren, which must argue that she knew she wouild never marry or that she knew of a disability that precluded childbearing2. Of her succession Elizabeth said, 'They were fooles that did not know that the lyne of Scotland must needes be next heires, but for all that nobodie dares ever sooth her when she saith it". In acnimoniouis corrcspondence the Scottish quieen tauinted Elizabeth of her imperfection. There were other rumours, nerhaps mere gossip. Thtus Ben Jonson confided to William Drtummond of Hawthornclen 'that she had a membrana upon her which made her uncapable of man, though for her delight she had tryed many'4. There mav be support for this in Elizabeth's enigmatic remark to Lord Sussex that she would never marrv for a reason that she couild not tell even to, a twin
solul5. Hunterian Lecture delivered at Oxford
on
Elizabeth's godson, Sir John Harington, 'did not printe nor publishe what he knew of a great secret of State', but he wrote in his diary what he hoped to publish later 'if he lyved to it' and when it would no longer be treasonable 'though in mynde Elizabeth hath ever an aversion and in body some indisposition to the act of marriage, yet hath she ever made showe of affection to some men . favourites . . . to hyde that debility enduring rather to run into some obloquie among straungers of a fault which she could not committ than to be suspected to want anything that belongs to the perfection of a faire ladie". Harington's disclosure is not to be dismissed lightly. His authority derives from his mother, Isabella Markham Harington, who at one time shared Elizabeth's imprisonment in the Tower and was of the Queen's privy chamber until the 2oth year of her reign. It was also rumoured that when the Duke of Aleneon came to England, he brought with him a French surgeon, 'but the intention that he should operate on the Queen was thwarted by her fear and by his death'4.
Even today, when there is scarcely anything under the sun that is not talked about, when so much is remediable, a few are silent about the genital defonrmity which so unhappily sets them apart. Elizabeth, Gloriana, of Royal Estate, was she perhaps more cruelly set apart and made less than lesser women by a disability which she was careful to conceal and of which she made no complaint? Cryptic and clever, stoical, resourceful, and withal unfailing in her love for England, she turned a queen's disadvantage to the nation's gain, and thus a feeble woman discovered in herself 'the heart and stomach of a king and of a King of England too'6. We may muse upon it. The mystery remains and I must move to firmer ground if I am to have yvour continued attention.
25th April 1975
Uterovaginal agenesis
Genital anomalies It is our delight that John Hunter's genius enabled him to make accurate observations upon which he exactly shaped his notable opinions. Yet he was capable of exaggeration in at least one respect, for the man who later recorded how both a hen pheasant and Lady Tynte's pea hen were transformed from their drab female state to the splendours of maleness claimed that the dons at Oxford wished to stuff him with Greek and Latin, thus to make of him an old woman7. Wisely and prudently young John Hunter left Oxford for London, where in due course he grew a beard. In the world's greatest metropolis the country boy, the naturalist, 'freed from the imprisonment of books,' asserted his originality and came to the greatest distinction, contributing vastly to surgical science. In Htunter's writing there is much that deals with anomalies of the genitalia. His description of the 'free martin' is particularly notable and it is clear that Hunter recognized its variabilitys. More than this, Hunter was aware of the gradation among animals from sexual normality to the classical hermaphrodite state. Pondering on the trick of nature that produced these curious distortions, it is unlikely that he would have left the matter, perhaps reflecting that divine providence had ordained it so. He would have sought more proximate causes. In this present time Hunter would have been quick to get to grips with the minutiae of celluilar anatomy and to perceive the importance of the chromosomes in the reproductive processes. He would have been excited by Barr and Bertram's description of the sex-specific intranuclear nodule in the tissue cells9. He would have weighed the Lyon hypothesis rezarding the seauestered X chromosome, aporeciatinZ its merits and noting its deficiencies". Hunter would have approved the contributions of Tjio and Levant", whose technique enabled the chromosomes in man to be counted, for karvotype determination has promoted the clinician's understanding of many sexual anomalies that were formerly merely bizarre and quite incomprehensible. In this lecture I wish to report on a series of patients who were referred because of some anomaly of the genitalia that imposed serious sexual disability. Fifty-two had neither uterus nor vagina. Four had functioning uteri but
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no apparent vaginal development. Three with female karyotypes were virilized and 6 with male karyotypes were feminized. Patients with so-called 'imperforate hymen', which yields to simple incision, were excluded. In passing I shall refer to 1 2 women disabled by Wertheim's hysterectomy and to 3 men who had undergone sex-changing operations elsewhere. If the personality is to develop easily and successfully, then the sex assigned at birth must be accepted naturally and without reserve. The greater number of my patients had no problem in this respect, but it was judged that the 3 men who had undergone a sexchanging operation experienced harrowing doubts and continuing humiliations which profoundly clouded their lives. Nor was it evident to me that their state after surgery was happier than before. Indeed, one who had generally enthused about sex-reversal operations confided in a moment of truth that his self-inflicted castration had totally removed all libido and had led to profound depression. It had been a further severe shock to learn that even when surgery was completed the law did not recognize that his sex had been in anv way altered, and finally he had realized with bitterness that if once he had been male he was now certainly not female. When a patient with an anomalous state of the genitalia presents, the diagnosis must be made precisely and the disability assessed so that surgery can be undertaken to restore the fullest useful function. The natient with a major genital abnom-ality becomes aware of it rather gradually, which mitigates distress, but it would be impossible to have the care of any number of these patients without knowing something of the dismay and anxiety that they suffer and that may be greatly exacerbated at times of personal crisis. Fortunately, when disclosing the nature of the abnormality, the surgeon has the opportunity to encourage the patient in the most practical way by offering appropriate surgery and the prospect of living a nearnormal life thereafter.
Uterovaginal agenesis In the past i i years I have been responsible for the care of 52 patients with uterovaginal
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agenesis, but the prevalence of this condition in the community is not known. There could be merit in the establishment of a register, perhaps under the aegis of the Royal College of Obstetricians and Gynaecologists, enabling Fellows and Members and others to submit information, but the considerable difficulties are appreciated. Nowadays uterovaginal agenesis is the preferred term. There is little to be said in favour of eponymy. It does not increase our understanding of the condition to refer to the Rokitansky-Kuster-Hausser syndrome'2. Rather than this I would prefer the old and common English usage, congenital absence of the vagina. Imprecise it may be, but at least it emphasizes the nature of the principal disability and indicates the problem that must be set right. The patient with uterovaginal agenesis has the normal female karyotype, 46 XX, and is entirely female in other respects. The abnormality is caused by a failure of organizer genes at a crucial time in embryonic life so that the caudal Miillerian ducts do not fuse and canalize. Consequently the uterus and vagina fail to develop, but the ovaries, fallopian tubes, and uterine ligaments are normally developed. Deriving from this genetic fault there may be a wider field effect. Howkins" has noted that as many as 30%/O of these patients have abnormalities of the renal tract and that 5 % have minor abnormalities of the vertebrae. I wish to stress a point that has received less attention-that the very pelvic floor shows evidence of hypoplasia in some io% of patients. Thus in my series there were 2 patients with notably patulous urethras, 2 had anal agenesis, and 2 developed enterocele. Moreover, this weakness of the pelvic floor has bee-n confirmed at dissection, for in some the tissues of the perineum and particularly of the potential vaginal space are extremely tenuous, yielding to the lightest pressure. Herein perhaps is the explanation of the ease with which a few patients have developed a vagina in response to coital efforts or continued local pressure, and in part it may explain the success of vulvavaginaplasty, which I shall describe presently. Lischke and his colleagues'4 claimed that uterovaginal agenesis had been found in one twArin only in a small series of identical twins.
This lack of concordance would suggest that no overriding inherited factor is operative, but Jones in 1973"O challenged this view by reporting the condition with a notable frequency in a particular family. There are no confirmatory reports. It is agreed that a familial incidence is not generally found in patients who have uterovaginal agenesis. The condition seems to depend on multiple factors, perhaps in women who are genetically predisposed. However, in the testicular feminizing syndrome, which has considerable clinical similarity, an increased incidence within kinship is evidence of an inherited genetic disorder transmitted by carrier females, half of whose sons are normal while half present with testicular feminizing syndrome. Dewhurst'6 has suggested that it should be called the androgen insensitivity syndrome.
Uterovaginal agenesis is Diagnosis rarely diagnosed before puberty. Even today, when the newborn are examined closely, there is no routine probing to to prove the existence of the vagina, nor would it be sensible to do this, for 'where ignorance is bliss 'tis folly to be wise', and it is to the patient's best advantage that she should enjoy a normal childhood. In due course, at puberty, all the expected secondary sexual characters develop. Still there is no suspicion of abnormality until persistent amenorrhoea arouses concern. The family doctor may reassure or prescribe cyclical oestrogens, and gynaecologists of considerable experience have sometimes followed this line, but the treatment must necessarily fail, for there is no endometrium to respond. Nowadays there is little excuse for failing to make a correct diagnosis, provided the history is considered and a sufficient examination is made. Tact and gentleness are necessary; almost always the matter can be decided in the consulting room. The vulva appears normal even when examined closely. The development of the hymen is variable. It may be fleshy, seeming to conceal a normal vagina, or it may be aggregated at a particular point, perhaps near the urethra, and a vaginal dimple may be conspicuous and complete, plainly indicating vaginal agenesis. The urethra is generally normal, but exceptionally it may be wide and it may have been made wider by attempts at coitus. It may
Uterovaginal agenesis admit I or 2 fingers and yet the patient is substantially continent of urine. I want to draw attention to the findings on rectal examination, for it is not generally realized that, when the uterus has failed to develop, a characteristic sign can be elicited. If the examining finger is introduced gently and far enough it is possible to identify the uterosacral ligaments, to hook the terminal phalanx over them, and to trace them continuously from one side of the pelvis to the other in front of the rectum because there is no midline development of the uterus or cervix. Thus a very shrewd idea of the matter can be gained by a simple digital rectal examination. Sometimes anaesthesia is necessary for a complete examination to be made. Then there is nowadays the opportunity for laparoscopy, which quite rightly has almost completely replaced the traumatic laparotomy that was often inflicted rather needlessly on these patients in former days. At laparoscopy it will be confirmed that there is no midline development of the uterus but that rudimentary, non-functioning hemiuteri, consisting of small masses of muscular tissue, are placed rather far laterally in the pelvis. The round ligaments, fallopian tubes, and ovaries are normal and in normal relationship to these uterine rudiments. The uterosacral ligaments are prominent and continuous in the midline and the pouch of Douglas is normal. The ovaries exhibit follicles in all stages of development and corpora lutea may be present, with ovaries cycling normally, a fact well shown by biphasic temperature charts. There is little point in steroid assay. Indeed, the patient's very feminine nature depends on normal ovarian function. It may not be too futuristic to reflect that a normal ovum is available for the taking. This could be fertilized by the husband's semen and possibly grown in a host uterus.
I wish to stress that basically a good history and a careful physical examination, perhaps with a laparoscopy, supported by the essential karyotype determination, enable the surgeon to make a diagnosis. He must tell the patient about it in terms she can understand and the necessary surgery must be undertaken at the optimum time.
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A few patients Vaginal enterocele have developed a considerable vagina in consequence of coital effort or continued local pressure may not require surgical asistance. In this series there was one patient aged i 8. She developed a vagina in this way and all seemed well after initial marriage
who
difficulties. Two years later the patient developed dyspareunia and a lump appeared at the vulva when she stood. This was a vaginal enterocele, containing loops of gut. Considerable surgery was necessary to oblate the enterocele and finally I performed vulvavaginaplasty successfully. Another patient upon whom I performed vulvavaginaplasty found the operation completely successful. She developed increasingly an axial pelvic vagina, but soon all the signs of enterocele were present on clinical examination. Yet the patient complained of no discomfort, but I expect that as time passes she will become increasingly conscious of the bulge. Thompson'7 reported the development of an enterocele after McIndoe's operation and described the elaborate repair that was necessary to correct the symptoms which it provoked. Thus we have knowledge of three patients with vaginal enterocele: one that developed spontaneously, a second in consequence of vulvavaginaplasty, and a third after McIndoe's operation. It seems that vaginal enterocele may come about when the vaginal mucosa is brought into close proximity to the pelvic peritoneum and when the fascia and muscle are insufficient to support the pressure gradient across the vaginal vault, and it is my contention that patients with uterovaginal agenesis are prone to deficiencies in muscular and fascial tissue and are therefore predisposed to the development of vaginal enterocele.
Vulvavaginaplasty Since 1938 McIndoe's operation'8 has held pride of place in the the Western world and has been preferred over all other methods of dealing with uterovaginal agenesis. The operation is not difficult to perform but it requires of the patient considerable fortitude. Usually it is not carried out until marriage is imminent, and herein may be a disadvantage. In the short term there is a liability to persistent vaginal granulations and occasionally to fistula. In the long term
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there is a liability to vaginal contracture. The use of soft moulds and suprapubic bladder catheterization have been substantial recent improvements. McIndoe's operation is absolutely indicated if the urethra is wide, with a risk of its further dilatation by coitus. This operation may also be necessary if the vulva is hypoplastic. When there is no menstruum to discharge, granted that the vulva is normally developed, I have generally preferred vulvavaginaplasty and I made an initial report in I964 of this operation which had then been used successfully on 3 patients'9. The first of these patients had suffered very severe vaginal stenosis after surgery. It was my original intention to perform a Mclndoe's operation with the generous assistance of my colleague, the late Emlyn Lewis, but I saw a simpler solution in the operation that is now generally known as vulvavaginaplasty. It worked well. The patient assured me that it had resolved intolerable marriage stress. It was therefore natural to use this simple operation for 2 young women with classical uterovaginal agenesis, and again it was successful. Thus it was established at an early stage that vulvavaginaplasty was simple and almost without risk and that it allowed easy recovery. It had the advantage that it could be performed as soon as the patient showed evidence of maturity, ideally at about i8 years of age, for there is no later liability to contracture. The operation promotes the young woman's self-confidence in the critical years when doubt and uncertainty concerning marriage prospects may precipitate anxiety and a personality disorder. Vulvavaginaplasty has been performed 52 times for uterovaginal agenesis. In one patient only was it not successful. This patient had a wide urethra and after vulvavaginaplasty there was evidence that her urethra was being stretched and made wider by coitus. I believe that if the urethra is patulous vulvavaginaplasty is contraindicated and Mclndoe's operation is more likely to give a satisfactory result. Vulvavaginaplasty can be performed after the McIndoe operation has failed owing to stenosis or fistula and was carried out on 4 such patients with complete success. The successive stages of vulvavaginaplasty are shown in Figures i-6. Preparation is exactly as for colporrhaphy. The patient is placed
in the lithotomy position. The labia majora and fourchette are infiltrated with 30 ml of a 1:200 000 solution of noradrenaline in physiological saline. The labia are seized lightly witlh Allis's tissue forceps and are distracted laterally so that their inner aspects are revealed to their greatest practicable extent. An incision is made splitting the fourchette and extending forward just within the hair line on each side of the vulva to a point in advance of the urethral orifice and some 4 cm lateral to it. This horseshoe-shaped incision is deepened until the bulbus spongiosus and perineai muscles are revealed to their greatest extent. When the dissection has been completed the inner skin margins are joined together progressively from the perineum forwards with No oo chromicized catgut sutures tied so that the knots lie within the lumen of the newly built vaginal tube. The bulbus spongiosus tissues are united in support of this and likewise adjacent connective tissue is drawn in to secure the maximum thickness and support. The external skin is closed with nylon stitches. If the operation has been properly contrived it will now be possible to insert 2 fingers into the newly created vagina. A plastic indwelling catheter inserted into the bladder at the outset of the operation should be supported to prevent its resting against the vaginal suture line. After the operation the patient should be confined to bed for a week, the bladder being drained continuously into a closed system. It is wise to give a sulphonamide to prevent urinary infection. The wound should be kept dry. Local radiant heat may provide comfort. If the patient is young it is permissible to hobble her with a bandage about the thighs so that they cannot be separated excessively, thus removing tension from the suture line. The stitches are removed in about 7 days. The patient is not examined vaginally until 6 weeks have passed, when all the soreness will have disappeared and there should be firm union of the tissues. It will be found that dilators size 5, 6, and 7 can be used progressively and that the vagina is of sufficient proportions to allow intercourse. The surgeon will encourage his patient's independence, though he must be available for consultation. The success of vaginaplasty hinges on the appropriation of
Uterovaginal
agenesis
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vaginal compartment, even if it is very small. Reflecting on these matters I have realized that the cervix lined by a mucosa that secretes plentifully prevents coagulation of the menstruum, contributes to the bulk of the menstruum, and allows its easy discharge. This is a function of the cervix that has not been generally appreciated, although it is well known that extensive coning of the cervix not infrequently leads to stenosis and menstrual retention. When a patient has a menstruating uterus, a well-formed cervix, and even a small natuiral upper vaginal compartment, then McTndoe's operation can be performed and is likely to be successful. It permits normal menstruation and, under favourable conditions, may lead to pregnancy, but if the cervix is illformed it is not so easy to convey the menstrutum externally. If a passage is prepared through a fibrous cervix and then lined with split skin, stenosis is likely and the menstruum will be retained. At least in theory, however, if such a passage through the cervix could be lined with a mucus-secreting epithelium it would perhaps be successful. I have not attempted stuch an operation. The favourable state which Jeffcoate indicates is not invariably present. Two patients in my series presented formidable problems and suffered considerable discomfort. In the end merit of simplicity. both came to hysterectomy because attempts to convey the menstruum externally were Vaginal aplasia In a different category and potentially more unsuccessful. One of these patients, aged I6 difficult to treat are patients with functioning years, first attended my colleague Mr Wheeler, uteri but with vaginal aplasia of varying at Reading. She had vaginal agenesis. Wheeler degrees. There were 4 such patients in my series. When the upper vagina is present, then there is a chamber in which the menstruum Technique of vulvavaginaplasty. (I) Patient accumulates. This is a favourable state and the draped and catheterized; vaginal dimple is risk of haematometra, haematosalpinx, and conspicuous but shallow. (2) Proposed incision haematoperitoneum is reduced, at least for marked. (3) Initial incision. (4)Incision deepsome time. Moreover, the condition can be ened; inner margins sutured with catgut stitches relieved simply by advancement of the vagina to form a vaginal tube. (5) Vaginal tube completed; glass obturator in position to check as described by Jeffcoate20. Two of my patients fitted exactly into this category. They have for size; the perineal muscles are joined with married; one has been delivered and the second sutures. (6) Skin has been closed with nylon is pregnant at this tirne. Jeff coate held that if sutures. (7) A two-finger vaginal examination the uterus menstruated, then the cervix was is made and should not be difficult if the conalways present, together with a vaginal com- struction has been properly planned. (8) Operpartment, which could be very small. Certain- ation completed; this vaginal obturator can be passed. Over the next months the vagina will ly if the external cervical os and portio vaginalis of the cervix are present there clearly must be a develop axially in response to coitus or dilators.
suifficient skin to line the new vagina. This is the reason why the initial mucosal incisions are made as near the hair line as possible and some from the midline, thus providing ample 4 mucosa to line a vagina about 3 cm in diameter and capable of stretching. After vulvavaginaplasty the patient finds no problem in micturating, seemingly because the vulval skin has wet-resisting properties. Furthermore, it has a self-cleansing quality, a point made familiar, for example, in the way that menstrual blood is dispersed from a normal vagina at the end of a period. Some patients mav find it convenient to use a lubricating jelly before coitus, but this is not always necessary, for Bartholin's glands may function sufficiently. It has been suggested that the vagina nroduced by this operation is ill-placed, but natients have not found this to cause difficulty. In normal women the vagina is necessarily a passage from the tuterus to the exterior and its axial position depends on this. When there is no menstruum to disperse and when conception is impossible there would seem to be no valid objection to its being placed farther forwards. Increased experience of vulvavaginaplasty has confirmed my opinion of its usefulness and it has been taken up increasingly by other surgeons, who perceive that it has the cm
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perfonned a left salpingo-o6phorectomy because this appendage had been converted into a bloody cyst by menstrual accumulation. She was referred to Oxford. Menstruation was suppressed with progestogens, which relieved her of dysmenorrhoea. Despite my reservations the patient, with whom the possibilities had been discussed, elected that Mclndoe's inlay vagina should be constructed and that it should be brought into communication with her endometrial cavity. The dissection from below was extraordinarily easy, but the uterus could not be reached as it seemed to move progressively cephalwards. My colleague Mr Batstone very skilfully cut a split skin graft and we implanted this on a soft mould. The take was excellent and a very commodious vagina resulted. Three months later, since the uterus was not accessible from below, laparotomy was performed. The uterus was found to be small and placed anteriorly in the pelvis. The bladder was carefullv mobilized and pushed down from the front of the uterus. The cervix, in my opinion. was scarcely present and the total length of the uterus from fundus to the lowest identifiable tissue was a mere 3 cm. An incision was made into the cavity of the uterus. A small endometrial cavity about I.5 cm in length was discovered. It appeared to terminate below in a bifid manner. Very carefully the uterus was totally removed. Only a rudimentary bifid cervix existed and there was no evidence of a cervical canal. Histological examination confirmed adenomyosis uteri, but there was no recognizable cervical tissue. Although disappointed, the patient accepted that hysterectomy was to her best advantage since it had not proved possible to make an effective passage between the endometrial cavity and the new vagina. Hvsterectomy had removed the risks of haematometra and haematosalpinx, and the risk of damage to her remaininm ovarv had been averted by removing a rather useless uterus. Another patient, aged 24. had been treated bv McTndoe's operation at the age of I7. A passage had been constructed from the endometrial cavity to the vagina in the hope that she would menstruate, but recurrent stenosis caused dysmenorrhoea and her menstruum was only slowly discharged, particulate and flaky on most davs of her cycle. The need for periodic dilatation, with occasional episodes of
sepsis, had made her life a misery. Stenosis and scarring in the vagina caused severe dyspareunia. When she came into my care it was possible with the finest probe, a mere nylon thread, to find a track from the vagina to the uterus. Realizing that it was not possible to make an adequate passage, I performed hysterectomy and conserved her right ovary. Extensive adhesions had disorganized the fallopian tubes. There was no free peritoneal space in the pelvic cavity and in reality there had been no prospect that she would conceive. Fibrotic and tender scars in her vagina were excised and vulvavaginaplasty was performed. She is now happy and comfortable and expects to marry, realizing that she cannot bear children. Her invalidism has been totally relieved.
Virilizing syndromes There were 3 patients in my series who had normal female karyotypes of 46XX but were considerably virilized, with fusion of the vulva. One of these, a baby girl, presented with marked clitoral hypertrophy. The vulva was grossly fused. It was shown by radiographv that she had a persistent urogenital sinus that opened ventrally at the base of her clitoris and communicated dorsally with her urethra and vagina. Surgery consisted first in laying open the fusion so that the urogenital sinus was displayed in its full length; its mucosal edges were then united to the labial skin, establishing a near-normal vulva. Secondly, the shaft of the clitoris was shortened and the glans sutured to its base. It is prooosed that at about puberty the vagina should be brought down to the vulva in the normal relationship, although the present sinus would allow the menstruum to escape. This condition was certainly caused by the mother's takinZ testosterone throughout her pregnancy. It had been prescribed to reduce the risk of abortion. The second girl had a simPle fusion deformity. No cause was determined. A Persistent urogenital sinus was laid open at 5 years of age to give her a normal vulva. At the age of i I the small sinus that led to her vagina was incised and her vagina was brought down properly to the vulva by a modified Fenton's operation to restore normal anatomy. These 2 girls had normal oxy- and hydroxyketoster-
Uterovaginal agenesis
oids and the second showed normal levels of oestrogens during her cycle at puberty and now menstniates. The third patient in this group, severely diabetic, was aged i6 and considered by her gynaecologist to have menstrual potential but no vagina. Laparoscopy had revealed a normal uterus with ovaries and fallopian tubes. Externally she showed severe fusion deformity with an opening at the base of the clitoris. In anticipation that retention of the menses would have an adverse effect, she was transferred to Oxford for investigation and construction of a vagina. By this time she had, on two occasions, seen blood in her urine. Simple clinical examination and radiography showed a persistent urogenital sinus and a normal vagina. The necessary suirgery was simple and immediately effective. The operation could be termed vulvalysis. The patient showed a marked diabetic retinopathy, and trophic changes were noted in the skin over her heels.
Testicular feminizing syndrome Six patients with male karyotypes, 46XY, had essentially normal female external genitalia, except for one who had fusion of the vulva and a persistent urogenital sinus. Two of these patients had clinical diabetes. In no patient had the uterus developed and in all the vagina ended blindly. Three patients came to puberty with breast development, but axillarv and pubic hair was virtually absent. They fitted easily into the category of testicular feminizing syndrome as described by Morris21. The gonad, a testis, had suppressed Miillerian development substantially but had not promoted normal male development. Dewhurst'" considers that the syndrome would be more accurately described if it were called the androgen end organ insensitivity syndrome. I believe that 2 more of my patients would have shown classical development of testicular feminizing syndrome except that gonadectomy in childhood and before puberty, performed at the time of herniorrhauhy, had caused them to be eunuchoid and their vulvas remained immature.
Patients with testicular feminizing svndromwho have very short vaoinas are narticularly suitable for vulvavaQinanlasty, which secures an excellent result. Tt was performed on 3
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patients, including the 2 whose development had been affected by gonadectomy. The sixth patient, with vulva fusion, did not fit exactly into the category of testicular feminizing syndrome, but when the fused tissues had been divided and this evidence of a masculinizing process was removed it was not difficult to think of her in such terms, although a rather considerable growth of hair at the vulva was evidence that the tissues were not totally insensitive to androgens. Of these 6 patients with male karyotypes, 4 have married and the remaining 2 hope to marry. Nurtured as females but incompletely feminine, without male attributes, with gonads secreting oestrogens and androgens, they function entirely as women except that they cannot bear children, and the curiousness of their condition interests the doctors more than it concerns the patient.
Consequences of sex-change operations Of the 3 men who, at other centres, had undergone operations to change their sex, one, who had suffered self-castration, later had an operation to amputate his penis, the scrotum was split and reduced to constitute labia majora, and a McTndoe vagina was constructed. This became grossly stenosed. I performed an operation along the lines of vulvavaginaplasty using the limited scrotal labial tissues. The advantage was cosmetic rather than functional and in fact rather completely met the needs of this patient who, without libido, enjoys chiefly to be socially a woman-to wear pretty clothes and swimming suits that emphasize the elegance of her figure. She has acquired a pleasant contralto speakine voice, but when recovering from anaesthesia her complaints were uttered grufflv in tones and terms that had been acquired in former days when serving in the Roval Navy. The second patient had undergone castration and penile amputation and the scrotuim had been invaginated to make a vagina. It was not satisfactory because it tended to be pendulous and insufficiently anchored to allow coitus; it retained urine and became offensive, for scrotal skin has no water-renelling properties. Some improvement was obtained by anchoring the scrotal vagina forwards by excising ellipses of skin in the anteroposterior direc-
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E A Williams
tion and closing them in the coronal plane. Daily use of a water-repelling cream materiallv improved the unpleasant state that had been caused by retained urine. The third patient, aged 22, sought a sexchange operation at Oxford. When he was examined it was found that the breasts were grossly distorted and hardened so that they resembled scirrhous carcinoma. This was in consequence of the injection of wax into the mammary tissues which had been carried out in Hong Kong. The patient was already taking large doses of oestrogens but had not submitted to surgery for sex reversal. The serious effects of his proposal were pointed out to him, but he still insisted on surgical assistance and an arrangement was made whereby he consulted an Oxford psychiatrist. Over the course of a month or so it was proposed that his state should be considered and assessed, but he became impatient and presented himself in another city, which Shelley described as 'smokey and very populous'. Within a day or two penile amputation and castration were effected and some form of plastic operation was undertaken to provide a vagina. The healing processes totally failed and he became suicidally depressed. He ran out of funds and his 'lover' (if that is the term) left him. Thus in the sad story of one patient can be seen many of the difficulties and disappointments that attend these unfortunates.
ensure a successful sexual life. In this group of I2 women the results were best in 4 who were under 30 years of age. This is not surprising. England's philosopher poets have proclaimed the advantages of youth, yet today an increasing number, leaving youth behind, come to the frustrations of old age. It will not be surprising that 3 women over 50 found that the results of vulvavaginaplasty were disappointing, although they insisted that the provision of a vagina had been a step that had helped them in coming to terms with a difficult situation, expressed rather characteristically in the phrase 'my husband doesn't really mind; what chiefly matters to him is that I should be well'.
Conclusion This is the sum of my experience of conditions that are uncommon, even in gynaecological practice. I am indebted to many colleagues who sent their patients to me. The need to encourage and reassure the patient transcends everything else. The surgical rule is simply to promote and restore realizable function and to avoid unnecessary complexity. It is for this reason that I have promoted vulvavaginaplasty. It is simple, it is safe, and it works. I wish to acknowledge the help of Drs Stephenson, Bobrow, and Lindenbaum from the Population Genetics Laboratory at Oxford and the help and friendly interest of Mr Tom Patterson and Mr John Batstone. My old friend Dr J V Mitchell has anaesthetized the majority of these patients and I am particularly indebted to him. I wish to acknowledge the invaluable help of my registrars and housemen and particularly to thank the nursing staff who have done so much to keep the patients cheerful and comfortable. Finally I wish to thank the President and Council of the Royal College of Surgeons for the invitation to give this lecture in honour of John Hunter. The illustrations are reproduced from Recent Advances in Gynaecology, Vol IV (I975) by kind permission of the publishers, Grune and Stratton Inc., New York.
Consequences of Wertheim's hysterectomy Twelve women disabled by Wertheim's hysterectomy and vaginectomy submitted to vulvavaginaplasty. To mitigate the effects of o6phorectomy they were given stilboestrol up to I5 mg a day. Vulvavaginaplasty has much to offer in this situation, for cervical cancer now increasingly assails women in the younger age groups. That there should be a vagina adequate for coitus is necessary if marriage is to be complete. Erotic inclination requires a sufficient level of circulating sex hornones so that References when conditions are suitable there is mental I Neale, Sir J E (I934) Queen Elizabeth, pp 220, 239, 240, 244. London, Jonathan Cape. excitement that enables sexual activity to be Sir J (I922) Memoirs of His Own Life, initiated and ensures that the tarzet organs are 2 pMelville, Abbey Classics Edition. Lorndon, 77. able to respond with orgasm. If this view is 3 Markham, C R (ed) (i 88o) A Tract on the accepted it will be apparent that the mere Succession to the Crown I602, p 40. London, Roxburghe Club. provision of a vagina, valuable as it is, does not
Utero vaginal agenesis 4 Patterson, R F (ed) (1923) Ben Jonson's Conversation with William Drummond of Hawthornden, p 15. London, Blackie. -5 Strachey, L (1948) Elizabeth and Essex, p 23. London, Chatto and Windus. 6 Churchill, W S (I964) The Island Race. London, Cassell. 7 Palmer, J F (ed) (i 835) The Works of John Hunter, vol. i, p I4. London, Langham, Rees, Orme, Brown, Green and Longman. '8 Palmer, J F (ed) (i 835) The Works of John Hunter, vol. 4, pp 34, 44 and 49. London, Langham, Rees, Orme, Brown, Green and Longman. 9 Barr, M L, and Bertram, E G (I 949) Nature, 163, 674. iO Lyon, M F (I96I) Nature, I90, 372. ii Tjio, J H, and Levan, A (1956) Heritas, 42, I. 12 Jones, H W, and Mermut, S (1972) American Journal of Obstetrics and Gynecology, II4, IIOO. I3 Howkins, J (i968) Shaw's Textbook of Operative Gynaecological Surgery, 3rd edn, p 146. Edinburgh and London, Livingstone.
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14 Lischke, J H, Curtis, C H, and Lamb, E J (I973) Obstetrics and Gynecology, 41, 920. I5 Jones, H W, and Mermut, S (1972) American Journal of Obstetrics and Gynecology, II4, II00. I6 Dewhurst, C J (1972) Integrated Obstetrics and Gynaecology for Postgraduates. Oxford, Blackwell Scientific. 17 Thompson, J D (I970) Communication at Sixth World Congress of Obstetrics and Gynecology. i8 Mclndoe, A H, and Bannister, J B (1938) Journal of Obstetrics and Gynaecology of the British Commonwealth, 45, 450. I9 Williams, E A (I964) Journal of Obstetrics and Gynaecology of the British Commonwealth, 71, 5''.
20 Jeffcoate, T N A (I969) Journal of Obstetrics and Gynaecology of the British Commonwealth, 76, 96I. 21 Morris, J McL (I953) American Journal of Obstetrics and Gynecology, 65, II92.
