In cases of familial primary ovarian insufficiency and disorders of gonadal development, consider NR5A1/SF-1 sequence variants

Autor: Sylvie Manouvrier-Hanu, Maryse Cartigny, Pascal Philibert, Juliette Bertrand-Delepine, Yves Morel, Didier Dewailly, Delphine Mallet, Sophie Catteau-Jonard, Françoise Paris, Christine Lefevre

Publikováno v: 2020, 40 (1), pp.151-159. ⟨10.1016/j.rbmo.2019.10.002⟩
Reproductive BioMedicine
Reproductive BioMedicine Online, Elsevier, 2020, 40 (1), pp.151-159. ⟨10.1016/j.rbmo.2019.10.002⟩

International audience; Research question: Primary ovarian insufficiency (POI) is defined as the early exhaustion of ovarian function, before the age of 40 years. Its origin is genetic in 20-25% of cases. In rare cases, sequence variants of the NR5A1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c23ca173deffcba7b13f9f5ae1fda85
https://hal.science/hal-02861041