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Article

[Children with idiopathic hypogonadotropic hypogonadism: clinical data analysis and mutations analysis of KAL1 and FGFR1 gene].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Dec 2014

Qin Miao, Gong Chunxiu, Qi Zhan, Wu Di, Liu Min, Gu Yi, Cao Bingyan, Li Wenjing, Liang Xuejun

Abstract excerpt

OBJECTIVE: To summarize the clinical features of idiopathic hypogonadotropic hypogonadism (IHH) diagnosed during childhood, and detect mutations in KAL1 and FGFR1, acting as key clues for diagnoses. METHOD: We collected and analyzed clinical data of 21 cases (including demographic data, chief complaint, history of present illness, family history, physical examination, laboratory tests and imaging studies, etc.)...

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Identifiers

PMID: 25619354

Genes

FGFR1
IHH

Provenance

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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