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An isolated hypogonadotropic hypogonadism male with a novel de novoFGFR1 mutation fathered a normal son evidenced by prenatal genetic diagnosis.

Andrologia - 1 Dec 2020

Xu Hao, Li Zongzhe, Sun Taotao, Chen Yingwei, Wang Daoqi, Wang Tao, Wang Shaogang, Liu Jihong

Abstract excerpt

Isolated hypogonadotropic hypogonadism (IHH) is a rare but treatable form of male infertility caused by congenital defect in gonadotropin-releasing hormone (GnRH) secretion or action. We report a Chinese IHH male with a novel FGFR1 mutation who successfully fathered a normal son. Targeted next-generation sequencing, bioinformatics analysis and Sanger sequencing were performed by using the DNA extracted from the...

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PMID: 32990989
DOI: 10.1111/and.13821

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