Endocrine Abstracts

17β-Hydroxysteroid dehydrogenase type 3 (encoded by HSD17B3) catalyses the conversion of Δ4-androstene-3.17-dione to testosterone and has a key role in male sexual development. Mutations in the HSD17B3 gene can result in reduced enzyme activity and decreased testosterone synthesis, leading to a rare autosomal recessive aetiology of 46, XY Disorders of Sex Development (46, XY DSD) named 17β-HSD3 deficiency. Here, we characterised three Tunisian ...

Introduction: Deficiency of 17-βHSD3 is a rare autosomal recessive disorder of sex development manifesting in XY karyotype individuals. The presentation can range from partial or incomplete virilisation at birth to primary amenorrhoea and virilisation at puberty of an externally phenotypically female individual.Case reports: Case1 A 2-year-old girl presented with ambiguity of external genetalia. She had no significant past medical or surgical histor...