hrp0084p2-304 | DSD | ESPE2015

A Novel Homozygous Missense Mutation in RSPO1 Associated with a Familial Case of 46,XX Testicular and Ovotesticular DSD

Naasse Yassine , Jennane Farida , Hicham Sibai , McElreavey Ken , Bashamboo Anu

Background: RSPO1 is an activator of the canonical Wnt signalling pathway by acting as a ligand for LGR4–6 receptors and an a 46,XX individual it represses testicular development. Only three families have been reported in the literature with recessive mutations in RSPO1 and syndromic 46,XX sex-reversal.Objective and hypotheses: We identified a consanguineous family from Southern Morocco with two sibs presenting with 46,XX testicular and ovo...