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Article

[Kallmann syndrome in a girl caused by a novel CHD7 variant].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 Feb 2026

Sun Rui-Jie, Zhang Xing-Xing

Abstract excerpt

This article reports the case of a 15-year-old girl with primary amenorrhea and olfactory dysfunction. Evaluation demonstrated hypogonadotropic hypogonadism, and an initial clinical diagnosis of Kallmann syndrome was made. Whole-exome sequencing identified a novel heterozygous CHD7 variant, c.5238_5239del(p.Tyr1746*), which was classified as likely pathogenic according to the variant interpretation guidelines of...

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Identifiers

PMID: 41766158
DOI: 10.7499/j.issn.1008-8830.2508150
PMCID: PMC12950970

Genes

CHD7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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