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 16-year-old patient with mixed gonadal dysgenesis (45X/46 XY mosaicism) who was being reared as male, who presented to us with gynaecomastia and the subsequent management issues in such patients. Keywords: disorders of sex development (DSD); Gynaecomastia; testicular biopsy; 45X/46 XY mosaicism
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