Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep781 | Endocrine Disruptors | ECE2017

Characterization of murine Leydig cell lines as tools to study androgen synthesis disruption by xenobiotics

Engeli Roger , Furstenberger Cornelia , Kratschmar Denise , Odermatt Alex

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...

ea0037ep116 | Steroids, development and paediatric endocrinology | ECE2015

Biochemical and molecular modelling analyses explain the functional loss of HSD17B3 mutant G133R in three Tunisian patients

Engeli Roger , Rhouma Bochra Ben , Sager Christoph R , Fakhfakh Faiza , Keskes Leila , Vedani Angelo , Belguith Neila , Odermatt Alex

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 ...