Sex reassignment in a girl with 11 beta-hydroxylase deficiency

A two-month-old infant was referred to our department because of a short penis (2 X 1.2 cm). No testes were palpable. Acceleration of growth and bone age were observed. Laboratory results showed that serum urea, nitrogen, electrolytes and urinary sodium excretion were all normal. However, levels of serum testosterone (2.1 ng/ml), 17-OH-progesterone (1.8 ng/ml), and 11-deoxycortisol (33 ng/ml) were all high. Urinary excretion of 17-ketosteroids and tetrahydro-s (tetrahydro-pregnane-3 alpha, 17 alpha, 21-triol-20-one) were also very high. Analysis revealed a 46 XX chromosome; laparoscopy revealed normal internal female genitalia. The abnormal concentrations of metabolites were corrected by cortisol acetate treatment. Thus, the diagnosis of virilizing congenital adrenal hyperplasia (11 beta-hydroxylase deficiency) was confirmed. Under our guidance the parents raised the infant as a girl. Reduction clitoroplasty and reconstruction of female external genitalia were performed at the age of 22 months. Early medical, psychological and surgical treatment of children with virilizing congenital adrenal hyperplasia should enable them to become normal adults.