936 revealed a diabetic response. High fasting blood-sugars had been noted previously. Common factors in this total of four cases are, besides manic-depressive illness and lithium therapy, sex (female), obesity, and age (over 30). Thirst, polyuria, and fatigue in a patient on lithium must not be dismissed as common-and,
therefore, acceptable-side-effects of the treatment. Dundee Liff Hospital, Dundee DD2 5NF
Royal
BRIAN B.
JOHNSTON
IDENTIFYING CARRIERS FOR X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA
SIR,-Heterozygotes for the X-linked gene of the Christ-Siemens-Touraine (C.S.T.) syndrome (also known under the misleading term anhidrotic or hypohidrotic ectodermal dysplasial) are generally reported as normal and the gene as recessive. In many instances, where the gene is uncritically accepted as completely recessive, women with a high probability of being heterozygotes are not even examined. This seems to reflect an interest restricted to the full-blown syndrome. In forty-two papers which clearly state that the women have been examined,$6 among 89 mothers of affected males and/or of carriers (63%), 8 among 19 daughters of affected fathers (42%), and 27 among 69 daughters of carriers (39%) had one or more signs of the C.S.T. syndrome, such as trichodysplasia (discrete), teeth defects (generally 1-5 missing teeth), hypohidrosis (very mild), and low sweat-pore counts in the fingertips. Saddle nose and protruding lips were also described as mild signs in some carriers.2.3 In a large kindred we have analysed (with 13 affected males and 27 "affected" females), the above frequencies were 9/13 (69%), 10/18 (55%), and 17/61 (28%), respectively. Since the first two figures in each set of data represent the manifestation-rates among carriers and the third figure represents the manifestation-rate in samples where only 50% are expected to be carriers, the first two values and twice the third may be accepted as estimates of the penetrance of the gene (42-78%). Since the traits will be missed if examination is not thorough and may not even be mentioned when a history is sought from carriers (who may not relate them to the severe syndrome of their sons ’or brothers), the best estimate of the penetrance of C.S.T. gene is probably near the upper limit of the above range; detailed clinical examination of putative carriers may disclose the trait in 70-80%. We suggest that C.S.T. syndrome has two forms,-a major form (in males) and a minor one (in females). Some females, however, present with the major form.4.sThere are three possible explanations for these findings: homozygosity for the autosomal recessive gene of an indistinguishable syndrome, homozygosity for the X-linked gene, and heterozygote manifestation of the X-linked syndrome due to skewed X-chromosome inactivation. Each family must be carefully investigated before one of these possibilities is picked on. But the main point is that since females who are close relatives of C.S.T. patients, usually want to know if they are carriers, doctors should be aware that detailed examination of the hair, teeth, sweating capacity, and so on may disclose mild C.S.T. traits and permit a good chance of identifying carriers. This is part of
a
research
project
which received grants from
W.H.O. and C.N.Pq. Department of Genetics, Federal University of Parans 80 000 Curitiba, Paraná, Brazil 1. 2. 3. 4.
M. PINHEIRO N. FREIRE-MAIA
Freire-Maia, N. Acta genet. med. Gemell. 1977, 26, 121. Olinsky, A., Thomson, P. D. S. Afr. med. J., 1970, 44, 1234. Glass, L. C., Yost, D. H. J. Hered. 1939, 30, 477. Everett, F. G., Jump, E. B., Sutherland, W. F., Savara,
J, Am. dent. Ass. 1952, 44, 173. 5. Seagle, J. B. Acta pœdiat. scand. 1954, 59, 94.
B.
S., Suher, T.
DETECTING BLADDER FULLNESS BY PALPATION
SUBJECTIVE
SIR,-Without urinary symptoms undue bladder fullness unsuspected. Even quite large bladders may not be palpable in the ordinary way especially if they are atonic. Percussion often does not help unless the bladder is grossly distended, and perhaps not even then in the obese. I have found a useful physical sign for detecting the height of the fundus which is also of value in detecting residual urine. The doctor gently pushes one finger perpendicularly into the lower abdomen starting from above and going down in steps towards the pubis. If this causes a call to micturition at any may be
point, the fundus is probably distended to that level. The subjective response is usually negative when pressure is applied only a centimetre or so above a bladder which is palpable objectively. The examination requires a cooperative patient with relaxed muscles. The response has to be interpreted with caution in confused patients, in patients with neurogenic bladders or with irritable bladders whether from functional
or
infective causes,
BLADDER VOLUMES IN PATIENTS WITH NEGATIVE AND POSITIVE PALPATION SIGNS
and in patients with painful lower-abdominal conditions. The method might be invalid for anatomical reasons in childhood and pregnancy. The sign was evaluated in 50 consecutive patients examined by cystoscopy. There were 34 men and 16 women, aged 20-84 years. 11 were under 50; 12 were over 75 years. The patients had been asked to void immediately before premedication, and were examined in the anoesthetic room. After passage of the cystoscope the bladder was emptied as fully as possible by manual expression and the urine volume was recorded. 20 patients were definite that suprapubic pressure evoked a call to micturition (sign positive) and 25 that it did not. Bladder volumes in these patients are shown in the table. In 5 patients the examination was inconclusive: 2 patients were uncertain (each with 130 ml); 1 was confused (30 ml); 1 already had a persistent urge to micturate (80 ml); and 1 with cystitis complained only of tenderness (80 ml). All 20 patients in whom suprapubic palpation evoked a call to micturition had at least 100 ml of urine in the bladder. Only 2 of those bladders were objectively palpable and percussable (340 ml and 980 ml respectively). The remaining 18 had a mean volume of 3 95 ±170 ml, including one obese woman with as much as 825 ml. None of the 25 patients with negative findings had more than 200 ml. Anatomical variation precludes an absolute dividing line between positive and negative responses in terms of bladder volume. The results did show that when suprapubic pressure evokes a call to micturition the bladder probably contains more than 100 ml of urine: conversely, where suprapubic pressure does not evoke a call to micturition, the bladder probably contains less than 200 ml. Clinical applications include the diagnosis of retention with overflow; older men attending the outpatient are routinely screened thus for residual urine. Postoperative retention mav be readily detected and its regression monitored, sometimes bv
therefore, acceptable-side-effects of the treatment. Dundee Liff Hospital, Dundee DD2 5NF
Royal
BRIAN B.
JOHNSTON
IDENTIFYING CARRIERS FOR X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA
SIR,-Heterozygotes for the X-linked gene of the Christ-Siemens-Touraine (C.S.T.) syndrome (also known under the misleading term anhidrotic or hypohidrotic ectodermal dysplasial) are generally reported as normal and the gene as recessive. In many instances, where the gene is uncritically accepted as completely recessive, women with a high probability of being heterozygotes are not even examined. This seems to reflect an interest restricted to the full-blown syndrome. In forty-two papers which clearly state that the women have been examined,$6 among 89 mothers of affected males and/or of carriers (63%), 8 among 19 daughters of affected fathers (42%), and 27 among 69 daughters of carriers (39%) had one or more signs of the C.S.T. syndrome, such as trichodysplasia (discrete), teeth defects (generally 1-5 missing teeth), hypohidrosis (very mild), and low sweat-pore counts in the fingertips. Saddle nose and protruding lips were also described as mild signs in some carriers.2.3 In a large kindred we have analysed (with 13 affected males and 27 "affected" females), the above frequencies were 9/13 (69%), 10/18 (55%), and 17/61 (28%), respectively. Since the first two figures in each set of data represent the manifestation-rates among carriers and the third figure represents the manifestation-rate in samples where only 50% are expected to be carriers, the first two values and twice the third may be accepted as estimates of the penetrance of the gene (42-78%). Since the traits will be missed if examination is not thorough and may not even be mentioned when a history is sought from carriers (who may not relate them to the severe syndrome of their sons ’or brothers), the best estimate of the penetrance of C.S.T. gene is probably near the upper limit of the above range; detailed clinical examination of putative carriers may disclose the trait in 70-80%. We suggest that C.S.T. syndrome has two forms,-a major form (in males) and a minor one (in females). Some females, however, present with the major form.4.sThere are three possible explanations for these findings: homozygosity for the autosomal recessive gene of an indistinguishable syndrome, homozygosity for the X-linked gene, and heterozygote manifestation of the X-linked syndrome due to skewed X-chromosome inactivation. Each family must be carefully investigated before one of these possibilities is picked on. But the main point is that since females who are close relatives of C.S.T. patients, usually want to know if they are carriers, doctors should be aware that detailed examination of the hair, teeth, sweating capacity, and so on may disclose mild C.S.T. traits and permit a good chance of identifying carriers. This is part of
a
research
project
which received grants from
W.H.O. and C.N.Pq. Department of Genetics, Federal University of Parans 80 000 Curitiba, Paraná, Brazil 1. 2. 3. 4.
M. PINHEIRO N. FREIRE-MAIA
Freire-Maia, N. Acta genet. med. Gemell. 1977, 26, 121. Olinsky, A., Thomson, P. D. S. Afr. med. J., 1970, 44, 1234. Glass, L. C., Yost, D. H. J. Hered. 1939, 30, 477. Everett, F. G., Jump, E. B., Sutherland, W. F., Savara,
J, Am. dent. Ass. 1952, 44, 173. 5. Seagle, J. B. Acta pœdiat. scand. 1954, 59, 94.
B.
S., Suher, T.
DETECTING BLADDER FULLNESS BY PALPATION
SUBJECTIVE
SIR,-Without urinary symptoms undue bladder fullness unsuspected. Even quite large bladders may not be palpable in the ordinary way especially if they are atonic. Percussion often does not help unless the bladder is grossly distended, and perhaps not even then in the obese. I have found a useful physical sign for detecting the height of the fundus which is also of value in detecting residual urine. The doctor gently pushes one finger perpendicularly into the lower abdomen starting from above and going down in steps towards the pubis. If this causes a call to micturition at any may be
point, the fundus is probably distended to that level. The subjective response is usually negative when pressure is applied only a centimetre or so above a bladder which is palpable objectively. The examination requires a cooperative patient with relaxed muscles. The response has to be interpreted with caution in confused patients, in patients with neurogenic bladders or with irritable bladders whether from functional
or
infective causes,
BLADDER VOLUMES IN PATIENTS WITH NEGATIVE AND POSITIVE PALPATION SIGNS
and in patients with painful lower-abdominal conditions. The method might be invalid for anatomical reasons in childhood and pregnancy. The sign was evaluated in 50 consecutive patients examined by cystoscopy. There were 34 men and 16 women, aged 20-84 years. 11 were under 50; 12 were over 75 years. The patients had been asked to void immediately before premedication, and were examined in the anoesthetic room. After passage of the cystoscope the bladder was emptied as fully as possible by manual expression and the urine volume was recorded. 20 patients were definite that suprapubic pressure evoked a call to micturition (sign positive) and 25 that it did not. Bladder volumes in these patients are shown in the table. In 5 patients the examination was inconclusive: 2 patients were uncertain (each with 130 ml); 1 was confused (30 ml); 1 already had a persistent urge to micturate (80 ml); and 1 with cystitis complained only of tenderness (80 ml). All 20 patients in whom suprapubic palpation evoked a call to micturition had at least 100 ml of urine in the bladder. Only 2 of those bladders were objectively palpable and percussable (340 ml and 980 ml respectively). The remaining 18 had a mean volume of 3 95 ±170 ml, including one obese woman with as much as 825 ml. None of the 25 patients with negative findings had more than 200 ml. Anatomical variation precludes an absolute dividing line between positive and negative responses in terms of bladder volume. The results did show that when suprapubic pressure evokes a call to micturition the bladder probably contains more than 100 ml of urine: conversely, where suprapubic pressure does not evoke a call to micturition, the bladder probably contains less than 200 ml. Clinical applications include the diagnosis of retention with overflow; older men attending the outpatient are routinely screened thus for residual urine. Postoperative retention mav be readily detected and its regression monitored, sometimes bv
