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

Reproductive biomedicine online - 1 Jan 2020

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

Abstract excerpt

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/SF-1 gene may result in POI, or in various disorders of gonadal development (DGD) or adrenal insufficiency. DESIGN: This study describes the cases of two families in which the association...

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PMID: 31831369
DOI: 10.1016/j.rbmo.2019.10.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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