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Article

Pubertal development in 46,XY patients with NR5A1 mutations.

Endocrine - 1 Feb 2022

Mönig Isabel, Schneidewind Julia, Johannsen Trine H, Juul Anders, Werner Ralf, Lünstedt Ralf, Birnbaum Wiebke, Marshall Louise, Wünsch Lutz, Hiort Olaf

Abstract excerpt

PURPOSE: Mutations in the NR5A1 gene, encoding the transcription factor Steroidogenic Factor-1, are associated with a highly variable genital phenotype in patients with 46,XY differences of sex development (DSD). Our objective was to analyse the pubertal development in 46,XY patients with NR5A1 mutations by the evaluation of longitudinal clinical and hormonal data at pubertal age. METHODS: We retrospectively...

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Share to Disorder of Sex Development, 46,XY
Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34613524
DOI: 10.1007/s12020-021-02883-y
PMCID: PMC8816419

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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