GENDER REVERSAL IN 46XX CONGENITAL VIRILIZING ADRENAL-HYPERPLASIA

Objective To review the results of gender reversal in six patients wit h 46XX congenital virilizing adrenal hyperplasia (CVAH). Patients and methods Fifty-one patients with 46XX CVAH were seen in an 8 year perio d; 45 were managed by conventional feminizing genitoplasty, but six un derwent gender reversal and were managed as males. The clinical decisi on for gender reversal was made after appropriate counselling and was based primarily on parental choice, this being influenced significantl y by a delayed diagnosis in four patients. Surgical management consist ed of gonadectomy, excision of Mullerian structures and staged hypospa dias repair/ chordee correction in four patients, and circumcision in two completely masculinized children. Results All six boys are well ad justed to their gender of rearing, with ages ranging from 3 years to 1 6.5 years (mean 8.5) at the time of review. Two children have normal p enises and four have a satisfactory result after two-stage repair of h ypospadias/chordee. Conclusion Most patients with 46XX CVAH are prefer ably raised as females and require a feminizing genitoplasty. However, the clinical decision may be influenced by many factors, including de lay in diagnosis, social bias and the premium on male rearing in certa in communities. When male rearing is chosen, early gonadectomy and exc ision of Mullerian structures, together with staged hypospadias repair , gives satisfactory results.