Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism

Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism are 2 forms of male pseudohermaphroditism that present with absent müllerian regression and ambiguous genitalia. We present a retrospective analysis of 10 patients with the diagnosis of either mixed gonadal dysgenesis or dysgenetic male pseudohermaphroditism encountered during a 16-year period at our institution. We assigned a female gender to 4 patients 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 assigned a male gender who underwent bilateral orchiopexy. Patients underwent hypospadias repair or feminizing genitoplasty depending upon the gender assigned. Although female gender assignment is usually preferred, male assignment is a justifiable alternative in instances of extreme virilization and a descended testis. However, in these male assigned patients, consideration must be given to the role of periodic testicular biopsies. In light of tumor potential, all intra-abdominal gonads should be removed. When necessary, appropriate surgical genitoplasty should be performed at an early patient age.