Abstract
The complexity of human sex differentiation becomes manifest in the variety of diseases associated with sex ambiguity (SA). There are a few clinical centers especially dedicated to the managament of such patients, and hence, few large series have been published. We had the oportunity to evaluate 126 cases of SA. Among them, 57 (45.2%) were male pseudohermaphrodites (MPH), 35 (27.8%) were female pseudohermaphrodites (FPH), 23 (18.3%) had anomalies of gonadal differentiation (AGD), and 11 (8.71) exhibited other genital abnormalities. Among MPH, 36 were considered idiopathic, due to our impossibility to study androgen/receptor binding in cultured fibroblasts to diagnose partial androgen resistance, 11 were syndromic, there were 5 anorchias, 3 had complete androgen resistance, 1 had mullerian persistence and 1 5-alpha-reductase deficiency. Congenital adrenal hyperplasia was the main cause of FPH (24); there were also 6 syndromic cases and 5 idiopathic cases. Among AGD, there were 10 cases of true hermaphroditism, 8 Klinefelter syndromes, 3 mixed gonadal dysgenesis and 2 testicular dysgenesis due to sex chromosome aberrations. There were also 4 cases of balano-prepucial hypospadias, 3 of cryptorchidism, 3 incarcerated ovaries and 1 idiopathic microrchidism. Such a large series could only be achieved as a result of an interdisciplinary approach to SA over approximately 5 years.
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Maciel-Guerra, A., Guerra, G., Marques-De-Faria, A. et al. ETIOLOGIC DIAGNOSIS IN 126 CASES OF SEX AMBIGUITY. Pediatr Res 38, 621 (1995). https://doi.org/10.1203/00006450-199510000-00028
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DOI: https://doi.org/10.1203/00006450-199510000-00028