Female pseudohermaphroditism and inefficient peak bone mass in an untreated subject affected by 21-hydroxylase congenital adrenal hyperplasia

Here we describe a subject with congenital adrenal hyperplasia due to 21-hy droxylase deficiency (21-CAH), in its classical virilizing form, who presen ted at birth ambiguous genitalia and subsequently was assigned by the paren ts as male. At the age of 8 years, he underwent a two-step surgical correct ion of hypospadia and at 22 years old, uterus and ovaries were removed and a bilateral testicular prothesis was surgically placed in scrotum. He refus ed any chronic glucocorticoid therapy, that was given only acutely to preve nt adrenal crises during stress, trauma surgery or severe illness. The pati ent is now 38 years old, he is genotypically female but phenotypically male , with high endogenous levels of androgen, all of adrenal origin, and with an apparent male sexual life. He had severe osteopenia, probably due to the lack of estrogen/androgen-induced increase in bone mineral density, althou gh periferal estrogen conversion was normal. His skeletal mass, in fact, no rmally acquired during adolescence and early adult life, could in this case be inefficient, for the precocious pseudopuberty, that caused an inefficie nt peak bone mass in adolescence period. (C) 2000, Editrice Kurtis.