Article
Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2015
Werner Ralf, Mönig Isabel, August Julia, Freiberg Clemens, Lünstedt Ralf, Reiz Benedikt, Wünsch Lutz, Holterhus Paul-Martin, Kulle Alexandra, Döhnert Ulla, Wudy Stefan A, Richter-Unruh Annette, Thorns Christoph, Hiort Olaf
Abstract excerpt
The differential diagnosis of 46,XY disorders of sex development (DSD) is based on the distinction between forms of gonadal dysgenesis and disorders of androgen biosynthesis and action. However, clinical and endocrine evaluations are often not conclusive. Here, we describe an adolescent female with hirsutism and hyperandrogenization at puberty. Her karyotype was 46,XY, and clinical investigation demonstrated...
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