Congenital adrenal hyperplasia: surgical considerations required to repair a 46,XX patient raised as a boy.

21-hydroxylase deficiency (P450 CYP21) accounts for 90% of cases of congenital adrenal hyperplasia (CAH), which is associated with abnormally low cortisol and high production of androgen precursors and is the most common cause of ambiguous genitalia. Increased androgen causes in utero virilization of the fetus, consisting of clitoral enlargement, an urogenital sinus, and labioscrotal enlargement and fusion. This is the first case in an experience covering more than 30 years, of a 46,XX patient raised as a boy. The authors report a case of a Pakistani patient born of a consanguineous union, who came to medical attention at age 3 because of severe genital ambiguity; genetic analyses showed that the child was a compound heterozygote for CAH. The surgical management of this patient consisted of (1) staged hypospadias repairs preceded by testosterone therapy, (2) creation of a bladder graft neourethra, (3) removal of müllerian structures, (4) correction of bifid prepenile scrotum, and (5) insertion of testicular prostheses. The commitment to raise a 46,XX child as a boy is a very rare event. With a series of staged complex surgical procedures and careful steroid replacement, normal secondary sexual characteristics can be achieved in these children.