Fibroblast Growth Factor Receptor 2c and human testicular dysgenesis

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Disorders of sex development (DSD) account for 7.5% of all birth defects. DSDs that affect testis development lead to testicular tumours, ambiguous genitalia, male-to-female sex reversal, and infertility. We have identified a novel protein (FGFR2) essential for testis development in mice and found the first FGFR2 mutations in DSD patients with testicular dysgenesis. Understanding the molecular action of FGFR2 will lead to improved diagnosis and management of DSD.