hrp0084p2-308 | DSD | ESPE2015

MAP3K1 Mutation in a Patient with Complete XY Gonadal Dysgenesis

Kohler Birgit , Gehrmann Nicole , Gruters-Kieslich Annette , Bignon-Topalovic Joelle , McElreavey Kenneth , Bashamboo Anu

Background: 49,XY gonadal dysgenesis (GD) is a very rare disorder of testes development with an incidence of 1:50–100 000. MAP3K1 is a MAPK that mainly regulates the MAPK pathways. High Map3k1 expression was found in female and male mice gonads at 13.5 dpc. In 2010, MAP3K1 mutations were identified in two families with complete and partial XY GD and in two unrelated sporadic cases with complete XY GD (Pearlman 2010 AJMG). Recently, four additional mutations (four out of 4...