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Article

Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.

The Journal of clinical endocrinology and metabolism - 1 May 2020

Li Jia-Da, Wu Jiayu, Zhao Yaguang, Wang Xinying, Jiang Fang, Hou Qiao, Chen Dan-Na, Zheng Ruizhi, Yu Renhe, Zhou Wei, Men Meichao

Abstract excerpt

PURPOSE: Idiopathic hypogonadotropic hypogonadism (IHH) and CHARGE (C, coloboma; H, heart abnormalities; A, choanal atresia, R, retardation of growth and/or development; G, gonadal defects; E, ear deformities and deafness) syndrome are 2 distinct developmental disorders sharing features of hypogonadism and/or impaired olfaction. CHD7 variants contribute to >60% CHARGE syndrome and ~10% IHH patients. A variety of...

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PMID: 31689711
DOI: 10.1210/clinem/dgz182

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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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