hrp0095p1-377 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Novel genomic variants, atypical phenotypes and evidence of a digenic/oligogenic contribution to Disorders/Difference of Sex Development in a large north African cohort.

Zidoune Housna , Ladjouze Asmahane , Chellat-Rezgoune Djalila , Boukri Asma , Aman Dib Scheher , Tebibel Meryem , Sifi Karima , Abadi Noureddine , Satta Dalila , Benelmadani Yasmina , Bignon-Topalovic Joelle , Bashamboo Anu , McElreavey Ken

The majority of individuals with disorders/differences of sex development (DSD) do not have a genetic etiology. However, recently new genes causing DSD have been reported and using the unbiased approach of whole exome sequencing (WES) the diagnostic yield should be improving. Here, we performed WES on a large cohort of 125 individuals all of Algerian origin, who presented with a wide range of DSD phenotypes. Parental consanguinity was reported in 36% of individuals. The geneti...