LONG-TERM CLINICAL AND SURGICAL OUTCOME OF SEVERELY UNDERVIRILIZED MALES — IMPLICATIONS FOR INITIAL MANAGEMENT

Abstract

Purpose Gender assignment in children with ambiguous genitalia represents an extremely difficult task since there is still a lack of agreement about optimal management. Those born with a small phallus and perineoscrotal hypospadias are difficult to treat and to counsel correctly. Herein, we present a homogenous group of undervirilized males with their long-term surgical and clinical outcome as well as their gender identity. Material and methods 21 patients (all 46 XY) who underwent genitoplasty for ambiguous genitalia in infancy or early childhood were retrospectively identified from the hospital's database. Mean follow-up after corrective surgery was 15.35 years. Initially all children presented with ambiguous genitalia (perineoscrotal hypospadias and cryptorchidism). Either female gender reassignment including gonadectomy, genital reconstruction and secondary vaginoplasty or orchidopexy and hypospadias repair were performed. All patients exhibited disturbances within the androgen receptor pathway. Gender identity and subjective satisfaction with genital surgery were individually assessed. Results 13 patients had female gender reassignment whereas 8 were raised as males. Gender identity and phenotypic sex were identical in all but one patient (28 y) who had a male gender identity despite a female sex of rearing. Genito-sexual function and cosmetic outcome as well as gender acceptance were reported to be satisfactory in 20 patients (95.2%). Conclusions Retrospectively, initial gender assignment was considered appropriate by the overwhelming majority of our patients reflected by a consistently high gender acceptance. Corrective surgery for ambiguous genitalia yielded durable functional and cosmetic results. Regarding the relative success of this therapeutic strategy we suggest that the sex of rearing should be decided based upon thorough information about the child's medical and surgical options as well as about all available outcome data.