ea0042oc4 | (1) | Androgens2016
Hornig Nadine C
, Ukat Martine
, Schweikert Hans-Udo
, Hiort Olaf
, Werner Ralf
, Drop Stenvert LS
, Cools Martine
, Hughes Ieuan A
, Audi Laura
, Ahmed S Faisal
, Demiri Jeta
, Rodens Pascal
, Worch Lisa
, Wehner Gaby
, Kulle Alexandra E
, Dunstheimer Desiree
, Muller-Roszberg Elke
, Reinehr Thomas
, Hadidi Ahmed T
, Eckstein Anne K
, van der Horst Christof
, Seif Christoph
, Siebert Reiner
, Ammerpohl Ole
, Holterhus Paul-Martin
Although androgen insensitivity syndrome (AIS) is commonly suspected as a cause of a 46,XY disorder of sex development (DSD), only about half of these cases can be attributed to an inactivating mutation within the coding sequence (CDS) of the androgen receptor (AR) gene. This led to the hypothesis that disrupted AR activation in AIS may also be caused by a defect in a co-factor of AR-activity. However, so far mutations in AR co-factors leading to AIS have not been ide...