hrp0089p1-p217 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Reduced Androgen Receptor Expression in Patients with 45,X/46,XY Mosaicism

Hornig Nadine , Demiri Jeta , Murga Eva , Caliebe Almuth , Schweikert Hans-Udo , Audi Laura , Werner Ralf , Hiort Olaf , Holterhus Paul-Martin

Background: Individuals born with a 45,X/46,XY karyotype can present with diverging phenotypes from normal male, Turner-like to ambiguous genitalia, the latter classically being called mixed gonadal dysgenesis. No correlation between phenotype and degree of mosaicisms in the karyotype could be ascertained so far, making clinical management of these patients difficult.Objective: To understand, if androgen action through the androgen receptor (AR) is compr...

hrp0084fc6.1 | Gonads & DSD | ESPE2015

Correlation of AR Expression and AR Transcriptional Activity in Cultured Human Genital Fibroblasts

Hornig Nadine , Rodens Pascal , Ukat Martin , Demiri Jeta , Eckstein Anne Katrin , van der Horst Christof , Seif Christoph , Ammerpohl Ole , Holterhus Paul-Martin

Background: The androgen receptor (AR) is essential for the development of primary and secondary male characteristics and is activated by its ligand dihydrotestosterone (DHT). Reduced AR activity can cause undervirilization and infertility. We recently developed an assay to test AR function as a ligand-dependent transcriptional activator in human genital skin fibroblasts (GF). So far it is unclear, if AR expression levels correlate with AR function in the male external genital...