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Article

A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency.

The Journal of clinical endocrinology and metabolism - 1 Apr 2004

Correa Rafaela V, Domenice Sorahia, Bingham Nathan C, Billerbeck Ana Elisa C, Rainey William E, Parker Keith L, Mendonca Berenice B

Abstract excerpt

Steroidogenic factor 1 (SF-1) is an orphan nuclear receptor that plays key roles in endocrine development and function. Knockout mice lacking SF-1 have adrenal and gonadal agenesis, impaired gonadotropin expression, and structural abnormalities of the ventromedial hypothalamic nucleus. Previous s...

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Source

Identifiers

PMID: 15070943
DOI: 10.1210/jc.2003-031240

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15070943-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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