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Article

A de novo SOX11 mutation causing hypogonadotropic hypogonadism: a case report and literature review.

BMC pediatrics - 21 May 2026

Chu Shanshan, Yuan Xuewen, Niu Qing, Gu Wei

Abstract excerpt

BACKGROUND: SOX11 variants have been associated with Coffin-Siris syndrome and a broader neurodevelopmental spectrum (IDDMOH), but their role in isolated or syndromic hypogonadotropic hypogonadism (HH) remains under-recognized. CASE PRESENTATION: We report a 13-year-old Chinese girl who presented with delayed puberty (Tanner B1, PH1), infantile uterus and low basal gonadotropins. Trio whole-exome sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42168980
DOI: 10.1186/s12887-026-06974-5
PMCID: PMC13471292

Genes

SOX11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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