British Journalof Urology (1992), 70, 201-209
01992 British Journal of Urology
frequency of posterior urethral valves in siblings should encourage antenatal and postnatal screening to avoid delayed diagnosis and irreversible renal deterioration.
Case Reports Posterior Urethral Valves in Non-twin Siblings
References
P. A. BORZI, S. W. BEASLEY and R. FOWLER, Department of General Surgery, Royal Children’sHospital, Melbourne, Australia
Although the familial incidence of urinary anomalies such as vesicoureteric reflux and hypospadias is well documented, reports of non-twin siblings with posterior urethral valves are uncommon (Hasen and Song, 1955; Kjellberg et al., 1957; Farkas and Skinner, 1976; Thomalla et al., 1989). We describe 2 pairs of affected non-twin siblings, the fifth such report in the world literature. Case Reports Case 1. A 3-day-old male infant presented with lethargy, tachypnoea and a palpable left renal mass. Radiology demonstrated a poorly functioning left kidney, bilateral vesicoureteric reflux, a left perirenal urinoma and Type I posterior urethral valves. He underwent transurethral ablation of the valves and left nephroureterectomy. Eight years later, at 3 weeks of age, his younger brother developed lethargy, vomiting and poor urinary stream. Following confirmation of Type I posterior urethral valves, he successfully underwent endoscopic valve ablation. Case 2. At 38 weeks’ gestation, a male infant was delivered in respiratory distress with dysmorphic features of “Potter’s syndrome” and failed to survive. Autopsy revealed megacystis, bilateral megaureters, bilateral renal dysplasia and Type I posterior urethral valves. Within 8 months his mother was again pregnant but serial prenatal ultrasound scans showed no urinary tract dilatation in the fetus. At 7 weeks of life this younger sibling presented with a poor urinary stream and a voiding cystourethrogram showed right vesicoureteric reflux and Type I posterior urethral valves. Endoscopic ablation of the valves was successful.
Comment This report documents 2 pairs of non-twin siblings with posterior urethral valves. Familial and genetic studies of children with posterior urethral valves are suggestive of multifactorial determination (Reule and Ansell, 1967; Kroovand et al., 1977; Michels et al., 1981). The apparent increased
Farkas, A. and Skinner, D. G. (1976). Posterior urethral valves in siblings. Br. J . Urol., 48,76. Hasen, H. B. and Song, Y. S. (1955). Congenital valvular obstruction of the posterior urethra in two brothers. J . Pediatr., 41,207-2 15. Kjellberg, S. R., Ericsson, N. 0. and Rudhe, V. (1957). Urethral valves. In The Lower Urinary Tract in Childhood. Some Correlated Clinical and Roentgenologic Observations. Chapter 10, p. 203. Chicago: Yearbook Medical Publishers. Kroovand, R. L., Weinberg, N. and Emami, A. (1977). Posterior urethral valves in identical twins. Pediatrics, 60,748. Michels, V. V., Driscoll, D. J., Ledbetter, D. H. et aJ. (1981). Phenotype associated with ring 10 chromosome: Report of patient and review of literature. Am. J . Med. Genet., 9, 231237. Reule, G. R. and Ansell, J. S. (1967). Discordant occurrence of genitourinary defects in monozygotic twins. J . Urol.,97,10781081. Thomalla, J. V., Mitchell, M. E. and Garett, R. A. (1989). Posterior urethral valves in siblings. Urology, 33,291-294. Requests for reprints to: S. W. Beasley, Department of Surgery, Royal Children’s Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
Two Rare Genital Abnormalities: Crossed Testicular and Scroto-testicular Ectopia H. DOGRUYOL, M. OZCAN and E. BALKAN, Departments of Paediatric and Plastic and Reconstructive Surgery, Uludag University, Bursa, Turkey
Cases of true testicular ectopia, excluding those in the superficial inguinal pouch, are rare (Murphy and Butler, 1985).In patients with crossed testicular ectopia, one testis deviates from the normal pathway of descent towards the contralateral scrotum and both testes are found on the same side. It is an extremely rare but well recognised condition (Beasley and Auldist, 1985). Cases of limited congenital scrota1 anomalies have been reported. These include bifid scrotum, penoscrotal transposition, accessory scrotum and ectopic scrotum. Among these, ectopic scrotum is very rarely seen (Lamm and Kaplan, 1977). We
20 1
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present 2 patients with genital anomalies and discuss their clinical characteristics and treatment.
Case Reports Case I. R.S., 137634-B, an 18-month-old boy, presented with a mass in the right inguinal area which had been noticed after birth. Physical examination revealed a right inguinal hernia. No testis was palpated on the left side. The child was admitted for a right herniotomy. At operation 2 testes were found within the hernial sac; their appearance was good and they were identical in size (Fig. 1). Each had its own ductus and vascular pedicle derived from the appropriate side. To rule out polyorchidism the left inguinal canal and retroperitoneal space were also inspected via an extended right inguinal to suprapubic incision on the left side but no testis, spermatic vessels or ductus were found. Each testis was fixed in each hemiscrotum by translocation of the left testis from the right to the left side via the left inguinal canal. Convalescence was uneventful and the patient was normal 2 years post-operatively. Case 2. S.A., 198401-Y, a 4-year-old boy, was admitted with a mass in the right inguinal area. On examination an ectopic right scrotal sac containing a palpably normal testis was found. The left hemiscrotum was well developed with a descended testis but without scrotal raphe. The penis was normal in appearance and location (Fig. 2). A right inguinal incision with a stitch sinus was detected. This patient was the first child of a 21-year-old woman and vaginal delivery had been normal. There was no family history of congenital anomalies and no drugs of any kind had been taken during the first trimester of pregnancy. The child had had a right herniotomy at the age of 2 months. Ultrasound demonstrated absence of the right kidney. This was confirmed by a 99mTcscan.
Fig. 1 Two testes of identical size within the hernia sac. Each testis has its own cord.
Fig. 2 Ectopic right inguinal scrotum containing palpably normal testis without scrotal raphe.
At operation the right ectopic hemiscrotum with testis was rotated to a normal position and sutured to the medial border of the normal scrotum. The post-operative course was uneventful.
Comment
The characteristic features of t h e true crossed ectopic testis have been described as follows. 1. Two testes are found on one side with no testis on the other side. 2. The 2 testes are identical i n size and appearance. 3. Each testis has its own epididymis, ductus deferens and testicular vessels. 4. T h e vascular supply is derived from the appropriate side. 5. There is an associated hernia on t h e side of the 2 testes and no hernia on t h e contralateral side (Beasley and Auldist, 1985). According to this definition of the condition, only 30 cases have been accepted as authentic in the world literature u p to 1983 (Doraiswamy, 1983). Including our patients, 9 new cases have been reported since then (Beasley and Auldist, 1985; Miura and Takahashi, 1985; Paviio et al., 1984; Tadera et al., 1985; Vianna et al., 1985; Gornall and Pender, 1987; Peters and Sing, 1987; Mouli et al., 1988). Nevertheless, Tadera et al. (1985) stated that 66 cases of ectopia testis transversa h a d been
01992 British Journal of Urology
frequency of posterior urethral valves in siblings should encourage antenatal and postnatal screening to avoid delayed diagnosis and irreversible renal deterioration.
Case Reports Posterior Urethral Valves in Non-twin Siblings
References
P. A. BORZI, S. W. BEASLEY and R. FOWLER, Department of General Surgery, Royal Children’sHospital, Melbourne, Australia
Although the familial incidence of urinary anomalies such as vesicoureteric reflux and hypospadias is well documented, reports of non-twin siblings with posterior urethral valves are uncommon (Hasen and Song, 1955; Kjellberg et al., 1957; Farkas and Skinner, 1976; Thomalla et al., 1989). We describe 2 pairs of affected non-twin siblings, the fifth such report in the world literature. Case Reports Case 1. A 3-day-old male infant presented with lethargy, tachypnoea and a palpable left renal mass. Radiology demonstrated a poorly functioning left kidney, bilateral vesicoureteric reflux, a left perirenal urinoma and Type I posterior urethral valves. He underwent transurethral ablation of the valves and left nephroureterectomy. Eight years later, at 3 weeks of age, his younger brother developed lethargy, vomiting and poor urinary stream. Following confirmation of Type I posterior urethral valves, he successfully underwent endoscopic valve ablation. Case 2. At 38 weeks’ gestation, a male infant was delivered in respiratory distress with dysmorphic features of “Potter’s syndrome” and failed to survive. Autopsy revealed megacystis, bilateral megaureters, bilateral renal dysplasia and Type I posterior urethral valves. Within 8 months his mother was again pregnant but serial prenatal ultrasound scans showed no urinary tract dilatation in the fetus. At 7 weeks of life this younger sibling presented with a poor urinary stream and a voiding cystourethrogram showed right vesicoureteric reflux and Type I posterior urethral valves. Endoscopic ablation of the valves was successful.
Comment This report documents 2 pairs of non-twin siblings with posterior urethral valves. Familial and genetic studies of children with posterior urethral valves are suggestive of multifactorial determination (Reule and Ansell, 1967; Kroovand et al., 1977; Michels et al., 1981). The apparent increased
Farkas, A. and Skinner, D. G. (1976). Posterior urethral valves in siblings. Br. J . Urol., 48,76. Hasen, H. B. and Song, Y. S. (1955). Congenital valvular obstruction of the posterior urethra in two brothers. J . Pediatr., 41,207-2 15. Kjellberg, S. R., Ericsson, N. 0. and Rudhe, V. (1957). Urethral valves. In The Lower Urinary Tract in Childhood. Some Correlated Clinical and Roentgenologic Observations. Chapter 10, p. 203. Chicago: Yearbook Medical Publishers. Kroovand, R. L., Weinberg, N. and Emami, A. (1977). Posterior urethral valves in identical twins. Pediatrics, 60,748. Michels, V. V., Driscoll, D. J., Ledbetter, D. H. et aJ. (1981). Phenotype associated with ring 10 chromosome: Report of patient and review of literature. Am. J . Med. Genet., 9, 231237. Reule, G. R. and Ansell, J. S. (1967). Discordant occurrence of genitourinary defects in monozygotic twins. J . Urol.,97,10781081. Thomalla, J. V., Mitchell, M. E. and Garett, R. A. (1989). Posterior urethral valves in siblings. Urology, 33,291-294. Requests for reprints to: S. W. Beasley, Department of Surgery, Royal Children’s Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
Two Rare Genital Abnormalities: Crossed Testicular and Scroto-testicular Ectopia H. DOGRUYOL, M. OZCAN and E. BALKAN, Departments of Paediatric and Plastic and Reconstructive Surgery, Uludag University, Bursa, Turkey
Cases of true testicular ectopia, excluding those in the superficial inguinal pouch, are rare (Murphy and Butler, 1985).In patients with crossed testicular ectopia, one testis deviates from the normal pathway of descent towards the contralateral scrotum and both testes are found on the same side. It is an extremely rare but well recognised condition (Beasley and Auldist, 1985). Cases of limited congenital scrota1 anomalies have been reported. These include bifid scrotum, penoscrotal transposition, accessory scrotum and ectopic scrotum. Among these, ectopic scrotum is very rarely seen (Lamm and Kaplan, 1977). We
20 1
202
BRITISH JOURNAL OF UROLOGY
present 2 patients with genital anomalies and discuss their clinical characteristics and treatment.
Case Reports Case I. R.S., 137634-B, an 18-month-old boy, presented with a mass in the right inguinal area which had been noticed after birth. Physical examination revealed a right inguinal hernia. No testis was palpated on the left side. The child was admitted for a right herniotomy. At operation 2 testes were found within the hernial sac; their appearance was good and they were identical in size (Fig. 1). Each had its own ductus and vascular pedicle derived from the appropriate side. To rule out polyorchidism the left inguinal canal and retroperitoneal space were also inspected via an extended right inguinal to suprapubic incision on the left side but no testis, spermatic vessels or ductus were found. Each testis was fixed in each hemiscrotum by translocation of the left testis from the right to the left side via the left inguinal canal. Convalescence was uneventful and the patient was normal 2 years post-operatively. Case 2. S.A., 198401-Y, a 4-year-old boy, was admitted with a mass in the right inguinal area. On examination an ectopic right scrotal sac containing a palpably normal testis was found. The left hemiscrotum was well developed with a descended testis but without scrotal raphe. The penis was normal in appearance and location (Fig. 2). A right inguinal incision with a stitch sinus was detected. This patient was the first child of a 21-year-old woman and vaginal delivery had been normal. There was no family history of congenital anomalies and no drugs of any kind had been taken during the first trimester of pregnancy. The child had had a right herniotomy at the age of 2 months. Ultrasound demonstrated absence of the right kidney. This was confirmed by a 99mTcscan.
Fig. 1 Two testes of identical size within the hernia sac. Each testis has its own cord.
Fig. 2 Ectopic right inguinal scrotum containing palpably normal testis without scrotal raphe.
At operation the right ectopic hemiscrotum with testis was rotated to a normal position and sutured to the medial border of the normal scrotum. The post-operative course was uneventful.
Comment
The characteristic features of t h e true crossed ectopic testis have been described as follows. 1. Two testes are found on one side with no testis on the other side. 2. The 2 testes are identical i n size and appearance. 3. Each testis has its own epididymis, ductus deferens and testicular vessels. 4. T h e vascular supply is derived from the appropriate side. 5. There is an associated hernia on t h e side of the 2 testes and no hernia on t h e contralateral side (Beasley and Auldist, 1985). According to this definition of the condition, only 30 cases have been accepted as authentic in the world literature u p to 1983 (Doraiswamy, 1983). Including our patients, 9 new cases have been reported since then (Beasley and Auldist, 1985; Miura and Takahashi, 1985; Paviio et al., 1984; Tadera et al., 1985; Vianna et al., 1985; Gornall and Pender, 1987; Peters and Sing, 1987; Mouli et al., 1988). Nevertheless, Tadera et al. (1985) stated that 66 cases of ectopia testis transversa h a d been
