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Article

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

BMC endocrine disorders - 5 Oct 2023

Tian Qingqing, Tang Jingjing, Wang Lihong, Liu Jiaojiao, Li Xiangshan, Cao Zhuozhuo, Tian Zhufang

Abstract excerpt

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...

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Identifiers

PMID: 37798680
DOI: 10.1186/s12902-023-01455-7
PMCID: PMC10557371

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