Abstract
The etiology of the genital anomalies in two unrelated teenagers with male pseudohermaphroditism and renal disease has been investigated. Patient A, 15-5/12 year old XY black, has stage 5 pubic hair, perineal hypospadius, 3 cc firm descended right testis, undescended left testis, 12 cm phallus with cordae, and focal segmental glomerulonephritis. Patient B, 13-2/12 year old XY white, showed stage 2 pubic hair, 1° hypospadius, 6 cm phallus, bilaterally undescended testes, left renal agenesis and right vesicoureteral reflux with a small hydronephrotic kidney. Also Patient B has anal atresia and vertebral anomalies. Although neither has a uterus or fallopian tubes, Patient A has a rudimentary vagina. Patient A had elevated gonadotropins (FSH >160, LH=60 miu/ml) and his testosterone did not rise (995→ 738 ng/dl) after 5 days of HCG. Patient B's gonadotropins (FSH=7.0, LH=5.0 miu/ml) were normal and testosterone rose with HCG (396→ 915 ng/dl). The cultured suprapubic skin fibroblasts from both patients had normal 5α-reductase activity and normal capacity of high affinity specific receptor for dihydrotestosterone. The etiology of the male pseudohermaphroditism is postulated to be a decreased androgen production in utero rather than an enzymatic defect in steroidogenesis or a defect in androgen binding.
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Meyer, W., Brouhard, B., Matustik, M. et al. 314 STUDIES OF ANDROGEN PRODUCTION AND BINDING IN THE SYNDROME OF MALE PSEUDOHERMAPHRODITISM AND CONGENITAL DEGENERATIVE RENAL DISEASE. Pediatr Res 12 (Suppl 4), 416 (1978). https://doi.org/10.1203/00006450-197804001-00319
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DOI: https://doi.org/10.1203/00006450-197804001-00319