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Article

ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Jul 2022

Zeng Wang, Li Jiada, Wang Xinying, Jiang Fang, Men Meichao

Abstract excerpt

OBJECTIVES: Congenital hypogonadotropic hypogonadism (CHH) is a rare congenital gonadal dysplasia caused by defects in the synthesis, secretion or signal transduction of hypothalamic gonadotropin releasing hormone. The main manifestations of CHH are delayed or lack puberty, low levels of sex hormones and gonadotropins, and may be accompanied with other clinical phenotypes. Some patients with CHH are also...

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PMID: 36039580
DOI: 10.11817/j.issn.1672-7347.2022.220071
PMCID: PMC10930292

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