hrp0086p2-p413 | Gonads & DSD P2 | ESPE2016

Two Patients Presenting the Extremes of the Phenotypic Spectrum of 5 alfa Reductase Deficiency: One with at New Mutation

Jensen Karen S , Hvistendahl Gitte M , Kristensen Kurt , Olsen Henning , Vogel Ida , Birkebaek Niels H

Background: The large phenotypic spectrum of Disorders of Sex Development are caused by mutations in many different genes, but a large phenotypic spectrum of sexual disturbancies may also be seen with different mutations in the same gene.Objective and hypotheses: To report on one new mutation in the 5 alfa reductase (SRD5A2) gene, and describe the extremes of the phenotypic spectrum of 5 alfa reductase deficiency presented in two patients.<p class="a...