17Beta-hydroxysteroid dehydrogenase type 3 deficiency: A single-center case series experience

17Beta-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency is a rare cause of disorders of sex development. It leads to an external female phenotype or varying degrees of undervirilization in XY patients. We report four cases with 17β-HSD3 deficiency, who presented at different ages with different complaints. The aim of this case series is to review the clinical, biochemical, and genetic characteristics of individuals diagnosed with 17β-HSD3 deficiency in a single tertiary center.