Endocrine Abstracts

Mammalian Leydig cells produce the majority of the systemic levels of the primary male sex hormone testosterone. Testosterone plays a crucial role during development of male reproductive tissues, onset of puberty, and maintaining health state. The final step of testosterone synthesis is catalyzed by 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3). Disruption of testosterone synthesis is associated with many diseases. Due to the lack of a human Leydig cell line, two dif...

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 ...