Ovotesticular DSD: Genetic background, histological features and clinical management

Author:

Syryn HannesORCID,Van De Vijver Koen,Cools Martine

Publisher

S. Karger AG

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Reference51 articles.

1. Arboleda VA, Sandberg DE, Vilain E. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol. 2014;10(10):603–15.

2. Baetens D, Verdin H, De Baere E, Cools M. Update on the genetics of differences of sex development (DSD). Best Pract Res Clin Endocrinol Metab. 2019;33(3):101271.

3. Tomaselli S, Megiorni F, De Bernardo C, Felici A, Marrocco G, Maggiulli G, et al. Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation. Hum Mutat. 2008;29(2):220–6.

4. Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, et al. NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. Genet Med. 2017;19(4):367–76.

5. Eozenou C, Gonen N, Touzon MS, Jorgensen A, Yatsenko SA, Fusee L, et al. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene. Proc Natl Acad Sci USA. 2020;117(24):13680–8.

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