ISSN 1662-4009 (online)

ey0020.4-7 | Novel Insights in Androgen Insensitivity Syndrome | ESPEYB20

4.7. Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development

HL Marko , NC Hornig , RC Betz , PM Holterhus , J Altmuller , H Thiele , M Fabiano , HU Schweikert , D Braun , U Schweizer

Brief summary: This translational study highlights the importance of 2 novel endocytic receptors that are involved in cellular androgen uptake and in the pathogenesis of androgen insensitivity syndrome (AIS) type II.Steroids circulate in complex with plasma transfer proteins, and specific endocytic receptors can mediate cellular uptake of transfer protein/ligand complexes. Reduced intracellular hormone concentrations resulting from impaired hormone uptak...