Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.

doi:10.1159/000320029

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Article

Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.

Hormone research in paediatrics - 1 Jan 2011

Warman Diana Monica, Costanzo Mariana, Marino Roxana, Berensztein Esperanza, Galeano Jesica, Ramirez Pablo C, Saraco Nora, Baquedano Maria Sonia, Ciaccio Marta, Guercio Gabriela, Chaler Eduardo, Maceiras Mercedes, Lazzatti Juan Manuel, Bailez Marcela, Rivarola Marco A, Belgorosky Alicia

Abstract excerpt

BACKGROUND: Three novel heterozygous SF-1 gene mutations affecting multiple members of two unrelated families with a history of 46,XY disorders of sex development (DSD) and 46,XX ovarian insufficiency are described. METHODS: clinical and mutational analysis of the SF-1 gene in 9 subjects of two families. RESULTS: family 1 had 2 affected 46,XY DSD subjects. One, born with severe perineal hypospadias, was raised as...

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PMID: 20861607
DOI: 10.1159/000320029

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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