A Rare Case of Mixed Gonadal Dysgenesis

Abstract

Mixed gonadal dysgenesis (45X/46XY and its variants) is a form of sex chromosome DSD (disorders of sex development). The clinical presentation of such patients is highly variable and mild variants may go unnoticed. Here we discuss a 13-year-old patient with mixed gonadal dysgenesis (45X/46 XY mosaicism) who was being reared as female, presented to us with virilizing symptoms and signs. The management issues in such patients were discussed.