MIXED GONADAL-DYSGENESIS AND DYSGENETIC MALE PSEUDOHERMAPHRODITISM

Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism are 2 forms of male pseudohermaphroditism that present with absent muller ian regression and ambiguous genitalia. We present a retrospective ana lysis of 10 patients with the diagnosis of either mixed gonadal dysgen esis or dysgenetic male pseudohermaphroditism encountered during a 16- year period at our institution. We assigned a female gender to 4 patie nts and a male gender to 3. Three patients were assigned a male gender before referral (2 for whom we would have preferred female assignment ). All intra-abdominal gonads were removed except in 2 patients assign ed a male gender who underwent bilateral orchiopexy. Patients underwen t hypospadias repair or feminizing genitoplasty depending upon the gen der assigned. Although female gender assignment is usually preferred, male assignment is a justifiable alternative in instances of extreme v irilization and a descended testis. However, in these male assigned pa tients, consideration must be given to the role of periodic testicular biopsies. In light of tumor potential, all intra-abdominal gonads sho uld be removed. When necessary, appropriate surgical genitoplasty shou ld be performed at an early patient age.