Searchable abstracts of presentations at key conferences in endocrinology

ea0070aep785 | Reproductive and Developmental Endocrinology | ECE2020

Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome

Hage Mirella , Drui Delphine , Ecomard Marie-Adèle , Mercier Sandra , Guiochon-Mantel Anne , Belaisch-Allart Joelle , Cazabat Laure , De Mazancourt Philippe , Raffin-Sanson Marie-Laure

Context: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disordercaused by mutations in the androgen receptor (AR) gene resulting in variable target tissue resistance to androgen action. The underlying molecular defect causes a spectrum of androgen dysfunction ranging from gynecomastia and/or infertility in mild AIS (MAIS) to variable degrees of ambiguous or undermasculinized genitalia in partial AIS to complete testicular feminization in complete A...