Abstract
Two Greek brothers (46XY) aged 16 and 18 years were brought up as females because of predominantly female external genitalia with clitoromegaly and urogenital sinus. At puberty there was genital masculinization with development of male musculature and body habitus without gynaecomastia. Both subjects changed from a female to a male gender role. Psychosexual orientation was male. Internal genitalia were normally formed with an ejaculate containing mature spermatozoa. In both subjects plasma testosterone(T) and androstenedione(A) were elevated, dihydrotestosterone(DHT) was in the low normal range and the plasma T/DHT ratio was elevated (34, 36). Plasma oestrogens were normal whereas SHBG binding capacity was elevated. The urinary 5β-aetiocholanolone/5α-androsterone ratios were elevated compared with normal subjects. Basal LH was normal but the LH response to LH-RH was exaggerated. Basal and peak FSH were elevated. The clinical and hormonal features are consistent with impaired peripheral conversion of T to DHT due to deficiency of 5α-reductase.
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Savage, M., Preece, M., Jeffcoate, S. et al. Familial male pseudohermaphroditism due to 5α-reductase deficiency. Pediatr Res 13, 1194 (1979). https://doi.org/10.1203/00006450-197910000-00082
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DOI: https://doi.org/10.1203/00006450-197910000-00082