Surgical treatments of 46, XX disorders of sex development due to congenital adrenal hyperplasia in children

Objective To explore the optimal surgical timing and outcomes of children with 46, XX disorders of sex development (DSD) due to congenital adrenal hyperplasia (CAH). Methods Thirty-nine children of 46, XX DSD from January 2008 to January 2015 and 18 cases of periodic outpatient follow-ups were recruited.Their mean age was 50 (14-159) months.And the follow-up period was 3 months to 7 years.Two patients of clitoral hypertrophy underwent clitoroplasty.And 16 cases were accompanied by common urogenital sinus opening with a mean length of 1.0 (0.5-4.0) cm.Eight cases underwent vaginoplasty and urethral forwarding simultaneously while another 8 cases had vaginoplasty alone because of decent vaginal and urethral locations. Results Among them, 15 cases were satisfied with overall appearance.Three cases developed clitoral hypertrophy due to steroid withdrawal.And sense of touch and temperature were normal.Among 8 cases with vaginoplasty and urethral forwarding, 6 cases had a normal vaginal location, vaginal stenosis occurred in 2 cases without vaginal expansion, 2 had a draw-back of urethral opening and 1 case of urethral vaginal fistula.Among 8 cases of vaginoplasty alone, the outcomes were normal vagina (n=6) and vaginal stenosis (n=2). Conclusions Controversy exists in optimal surgical timing.Early clitoroplasty yields good perineal appearance and maintains the sensory function of clitoris.Surgery should be performed as soon as possible after a definite diagnosis and a control of hormone levels.Completion during preschool is ideal.Early vaginoplasty yields excellent results, but vaginal stenosis persists.Urethral forwarding may lead to urethral backing and urethral vaginal fistula.The surgical timing should be adjusted on the basis of hormonal levels, perineal development and institutional sophistication. Key words: Congenital adrenal cortical hyperplasia; Disorders of sex development; Vaginoplasty