Abstract
SummaryA case of male pseudohermaphroditism (46XY) due to 17β-hydroxysteroid dehydrogenase deficiency in a 14-year-old child is reported. The patient, unambiguously brought up as a girl, had noted clitoromegaly 10 months before presentation, together with deepening of voice, facial acne and absence of breast development or menstruation. Inguinal testes were palpable. Serum androstenedione was greatly elevated, whereas testosterone and dihydrotestosterone were at the lower end of the normal adult male range; serum oestradiol, oestrone and gonadotrophins were elevated. Testicular biopsy showed pronounced hyperplasia of the Leydig cells and absence of spermatogenesis. Incubation of slices of testicular tissue with 17α-hydroxyprogesterone showed no significant conversion of androstenedione to testosterone, yet abundant androgen receptor activity was demonstrated
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