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Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.

Fertility and sterility - 1 Jan 2020

Men Meichao, Wu Jiayu, Zhao Yaguang, Xing Xiaoliang, Jiang Fang, Zheng Ruizhi, Li Jia-Da

Abstract excerpt

OBJECTIVE: To analyze the prevalence of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism (IHH) and to characterize the clinical presentations and therapeutic outcomes of IHH patients with FGFR1, FGF8, and FGF17 mutations. DESIGN: Retrospective cohort. SETTING: University hospital. PATIENT(S): A total of 145 IHH probands (125 men and 20 women) were recruited for...

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PMID: 31748124
DOI: 10.1016/j.fertnstert.2019.08.069

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