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Article

Pubertal androgenization and gonadal histology in two 46,XY adolescents with NR5A1 mutations and predominantly female phenotype at birth.

European journal of endocrinology - 1 Feb 2012

Cools M, Hoebeke P, Wolffenbuttel K P, Stoop H, Hersmus R, Barbaro M, Wedell A, Brüggenwirth H, Looijenga L H J, Drop S L S

Abstract excerpt

OBJECTIVE: Most patients with NR5A1 (SF-1) mutations and poor virilization at birth are sex-assigned female and receive early gonadectomy. Although studies in pituitary-specific Sf-1 knockout mice suggest hypogonadotropic hypogonadism, little is known about endocrine function at puberty and on ge...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22080441
DOI: 10.1530/EJE-11-0392

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22080441-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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