Mutations in NR5A1 associated with ovarian insufficiency by 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 in The New England journal of medicine (2009).

[PMID: 19246354] PubMed


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 key role for this factor in ovarian development and function as well.

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