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Article

Mutations in NR5A1 associated with ovarian insufficiency.

The New England journal of medicine - 19 Mar 2009

Lourenço Diana, Brauner Raja, Lin Lin, De Perdigo Arantzazu, Weryha Georges, Muresan Mihaela, Boudjenah Radia, Guerra-Junior Gil, Maciel-Guerra Andréa T, Achermann John C, McElreavey Ken, Bashamboo Anu

Abstract excerpt

BACKGROUND: The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies in mice suggests a...

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Identifiers

PMID: 19246354
DOI: 10.1056/NEJMoa0806228
PMCID: PMC2778147

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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