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Article

Functional analysis of SEMA3A variants identified in Chinese patients with isolated hypogonadotropic hypogonadism.

Clinical genetics - 1 May 2020

Dai Wenting, Li Jia-Da, Zhao Yaguang, Wu Jiayu, Jiang Fang, Chen Dan-Na, Zheng Ruizhi, Men Meichao

Abstract excerpt

Isolated hypogonadotropic hypogonadism (IHH) is a rare disorder characterized by impaired sexual development and infertility, caused by the deficiency of hypothalamic gonadotropin-releasing hormone neurons. IHH is named Kallmann's syndrome (KS) or normosmic IHH (nIHH) when associated with a defective or normal sense of smell. Variants in SEMA3A have been recently identified in patients with KS. In this study, we...

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PMID: 32060892
DOI: 10.1111/cge.13723

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