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Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report.

Authors :
Tian, Qingqing
Tang, Jingjing
Wang, Lihong
Liu, Jiaojiao
Li, Xiangshan
Cao, Zhuozhuo
Tian, Zhufang
Source :
BMC Endocrine Disorders. 10/5/2023, Vol. 23 Issue 1, p1-7. 7p.
Publication Year :
2023

Abstract

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is a rare congenital or acquired genetic disorder caused by gonadotropin-releasing hormone (GnRH) deficiency. IHH patients are divided into two major groups, hyposmic or anosmic IHH (Kallmann syndrome) and normosmic IHH (nIHH), according to whether their sense of smell is intact. Here we report a case of novel compound heterozygous mutations in the GNRH1 gene in a 15-year-old male with nIHH. Case presentation: The patient presented typical clinical symptoms of delayed testicular development, with testosterone < 3.5 mmol/L and reduced gonadotropin (follicle-stimulating hormone, luteinizing hormone) levels. Two heterozygous variants of the GNRH1 gene were detected, nonsense variant 1: c.85G > T:p.G29* and variant 2: c.1A > G:p.M1V, which disrupted the start codon. Conclusions: Two GNRH1 mutations responsible for nIHH are identified in this study. Our findings extend the mutational spectrum of GNRH1 by revealing novel causative mutations of nIHH. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
14726823
Volume :
23
Issue :
1
Database :
Academic Search Index
Journal :
BMC Endocrine Disorders
Publication Type :
Academic Journal
Accession number :
172805584
Full Text :
https://doi.org/10.1186/s12902-023-01455-7