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Article

Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.

The Journal of clinical endocrinology and metabolism - 1 Apr 2002

Achermann John C, Ozisik Gokhan, Ito Masafumi, Orun Utku A, Harmanci Koray, Gurakan Berkan, Jameson J Larry

Abstract excerpt

The orphan nuclear receptor steroidogenic factor-1 (SF-1, NR5A1) regulates the transcription of multiple genes involved in steroidogenesis, reproduction, and male sexual differentiation. A heterozygous loss-of-function SF-1 mutation (G35E) has been described in a patient with adrenal failure and complete 46XY sex-reversal, indicating that haploinsufficiency of this factor is sufficient to cause a severe clinical...

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Identifiers

PMID: 11932325
DOI: 10.1210/jcem.87.4.8376

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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