Pediatric surgical images: Mixed gonadal dysgenesis

Abstract

MIXED GONADAL dysgenesis is an intersex disorder often characterized by gonadal asymmetry with a dysgenetic testis on one side and a streak gonad on the contralateral side. Patients usually have 45X/46XY mosaicism. The dysgenetic gonad is known to have an increased risk for gonadoblastoma; therefore, the gonad often is removed, and female reconstruction is performed followed by hormone replacement therapy. Retained Müllerian remnants are common. Some features of Turner’s syndrome including shortness of stature are common, and this, along with the presence of a small phallus, has led to many patients being assigned the female gender and reconstructed as female. A more conservative approach to gender assignment has more recently been considered. If the phallus is sufficiently masculinized and the hypospadias is reparable, male reconstruction with male hormone replacement therapy is an option. As the child approaches puberty, hormone studies should be performed to assess the functional capability of the testis. If there is a deficiency, hormone supplementation may be necessary during puberty.