Article
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.
PloS one - 1 Jan 2017
Werner Ralf, Mönig Isabel, Lünstedt Ralf, Wünsch Lutz, Thorns Christoph, Reiz Benedikt, Krause Alexandra, Schwab Karl Otfried, Binder Gerhard, Holterhus Paul-Martin, Hiort Olaf
Abstract excerpt
Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. Here we present the clinical follow up of four 46,XY DSD patients with three novel heterozygous mutations in the NR5A1 gene leading to a p.T40P missense mutation and a...
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