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Article

Novel FSHβ mutation in a male patient with isolated FSH deficiency and infertility.

European journal of medical genetics - 1 Jun 2017

Zheng Junjie, Mao Jiangfeng, Cui Mingxuan, Liu Zhaoxiang, Wang Xi, Xiong Shuyu, Nie Min, Wu Xueyan

Abstract excerpt

Isolated follicle stimulating hormone (FSH) deficiency due to mutations in FSHβ is an extremely rare autosomal recessive disease that has only been reported in ten patients to date. Symptoms of the disease include amenorrhoea and hypogonadism in women and azoospermia and normal testosterone levels in men. This study describes a Chinese male patient who presented with cryptorchidism and infertility. His serum...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28392474
DOI: 10.1016/j.ejmg.2017.04.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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