Post-pubertal female psychosexual orientation in incomplete male pseudohermaphroditism type 2 (5α-reductase deficiency)

Abstract

An 18-yr-old 46,XY female-reared patient with incomplete male pseudohermaphroditism type 2 (5.alpha.-reductase deficiency) was studied. She had a male habitus, Wolffian ducts derivatives, normal testes and small phallus; there were no Mullerian duct derivatives nor gynecomastia. Clinical and genetic data were typical of the diagnosis which was corroborated by endocrinological studies. Normal lutropin, follitropin, testosterone (T) and estradiol and decreased dihydrotestosterone (DHT) plasma levels before and after human chorionic gonadotropin administration were found; the T:DHT ratio was highly increased. The histopathological studies of a testis biopsy showed a normal adult male pattern, and the meiotic chromosomes were interpreted as normal. After assessment of her psychosexual orientation, successful surgical and medical therapy to maintain and improve her femaleness was effectuated. The post-pubertal gender role switch commonly observed in these female-reared patients is discussed.