title: Novel FSHβ mutation in a male patient with isolated FSH deficiency and infertility.
abstract: 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 hormonal profile revealed low FSH, elevated LH and normal testosterone levels. Sequence analysis identified a novel homozygous mutation in the FSHβ gene (c.343C > T) predicted to result in a premature termination codon and a truncated FSH protein (p.R115X). Both parents were heterozygous carriers of the mutation with normal pubertal development and fertility. The patient's testicular volume increased after one year of exogenous FSH replacement therapy at which point spermatocytes were detected in seminal samples, indicating potential future spermatogenesis. The expanded spectrum of FSHβ mutations and associated clinical manifestations described in this study may improve the diagnosis and treatment of this disease.
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuai Fuyuan 1#, Dongcheng District, Beijing 100730, China.
authors.forename: Junjie
authors.initials: J
authors.lastname: Zheng
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuai Fuyuan 1#, Dongcheng District, Beijing 100730, China.
authors.forename: Jiangfeng
authors.initials: J
authors.lastname: Mao
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuai Fuyuan 1#, Dongcheng District, Beijing 100730, China.
authors.forename: Mingxuan
authors.initials: M
authors.lastname: Cui
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuai Fuyuan 1#, Dongcheng District, Beijing 100730, China.
authors.forename: Zhaoxiang
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuai Fuyuan 1#, Dongcheng District, Beijing 100730, China.
authors.forename: Xi
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuai Fuyuan 1#, Dongcheng District, Beijing 100730, China.
authors.forename: Shuyu
authors.initials: S
authors.lastname: Xiong
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuai Fuyuan 1#, Dongcheng District, Beijing 100730, China. Electronic address: nm_pumch@aliyun.com.
authors.forename: Min
authors.initials: M
authors.lastname: Nie
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuai Fuyuan 1#, Dongcheng District, Beijing 100730, China. Electronic address: wsheyan@vip.sina.com.
authors.forename: Xueyan
authors.initials: X
authors.lastname: Wu
mesh_terms: D000328:Adult; D018388:Codon, Terminator; D005640:Follicle Stimulating Hormone / Q000172:deficiency* / Q000235:genetics; D037201:Follicle Stimulating Hormone, beta Subunit / Q000235:genetics* / Q000627:therapeutic use; D006579:Heterozygote; D006720:Homozygote; D020249:Hormone Replacement Therapy; D006801:Humans; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*
chemical_list: D018388:Codon, Terminator; D037201:Follicle Stimulating Hormone, beta Subunit; D005640:Follicle Stimulating Hormone
keywords: Cryptorchidism; FSHβ mutation; Infertility; Male