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
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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
