hrp0086p2-p390 | Gonads & DSD P2 | ESPE2016

Three Cases of NR5A1 (SF1) Gene Mutations in DSD Patients

Raygorodskaya Nadezda , Bolotova Nina , Kolodkina Anna , Dronova Elena

Background: NR5A1 mutations in DSD patients result in a wide range of clinical manifestations.Objective and hypotheses: To evaluate the clinical variability of ambiguous phenotypes and the gender assignment in DSD patients with SF1 mutations.Method: Clinical examination, hormonal tests, ultrasound, laparoscopy and molecular analyses, including direct and parallel sequencingResults: Case 1. A girl, aged 18 mon...