Urological Outcomes of 45xo/46xy Mixed Gonadal Dysgenesis

Purpose Mixed Gonadal Dysgenesis (MGD) is one of the more frequent intersex disorders. The most common genotype is 45XO/46XY mosaicism and these patients typically present with a streak gonad on one side and a palpable gonad on the other with hypospadias. Debate exists over the nomenclature and management of MGD. Many would advocate bilateral gonadectomy and a female sex of rearing. However little is known about the outcomes of these patients. Recent reports have demonstrated success with the male sex of rearing. Material and methods Retrospective analysis revealed 13 patients with MGD and a proven 45XO/46XY with complete records and documented follow-up. Case notes were evaluated for clinical presentation, investigation (biochemical, radiological, and histological) operative procedures and outcomes. Results Median age at presentation was 60 months (range; birth-11 years), and gender was assigned at a median of 2 days (range; 0-35 days). Nine cases presented with ambiguous genitalia at birth and referred for intersex evaluation. Four were initially assigned as males at birth but overall 9 were reared as males. Eight cases had unilateral palpable gonad and 4 had bilateral impalpable gonads. Three patients were gender reassigned to the female sex of rearing on the basis of an inadequate phallus. The median XO:XY ratio was 80:20 respectively. All patients had removal of streak gonads. Bilateral gonadectomy was performed in 5 cases and 8 had contralateral orchidopexy. The follow-up ranged from 10-144 months (median 63 months). Conclusions We are witnessing a paradigm shift in the management of children with MGD. Modern reconstructive surgical techniques are allowing more patients to be successfully reared as males.