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Article

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.

European journal of endocrinology - 1 Jul 2012

Tantawy Sally, Lin Lin, Akkurt Ilker, Borck Guntram, Klingmüller Dietrich, Hauffa Berthold P, Krude Heiko, Biebermann Heike, Achermann John C, Köhler Birgit

Abstract excerpt

BACKGROUND: Steroidogenic factor 1 (SF-1, NR5A1) is a key transcriptional regulator of many genes involved in the hypothalamic-pituitary-gonadal axis and mutations in NR5A1 can result in 46,XY disorders of sex development (DSD). Patients with this condition typically present with ambiguous genitalia, partial gonadal dysgenesis, and absent/rudimentary Müllerian structures. In these cases, testosterone is usually...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22474171
DOI: 10.1530/EJE-11-0944
PMCID: PMC3381348

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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