Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report
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), accor...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-10-01
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| Series: | BMC Endocrine Disorders |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12902-023-01455-7 |
| _version_ | 1797452364125306880 |
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| author | Qingqing Tian Jingjing Tang Lihong Wang Jiaojiao Liu Xiangshan Li Zhuozhuo Cao Zhufang Tian |
| author_facet | Qingqing Tian Jingjing Tang Lihong Wang Jiaojiao Liu Xiangshan Li Zhuozhuo Cao Zhufang Tian |
| author_sort | Qingqing Tian |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T15:07:19Z |
| format | Article |
| id | doaj.art-72d88f1978314814a21e682e8277b283 |
| institution | Directory Open Access Journal |
| issn | 1472-6823 |
| language | English |
| last_indexed | 2024-03-09T15:07:19Z |
| publishDate | 2023-10-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Endocrine Disorders |
| spelling | doaj.art-72d88f1978314814a21e682e8277b2832023-11-26T13:34:50ZengBMCBMC Endocrine Disorders1472-68232023-10-012311710.1186/s12902-023-01455-7Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case reportQingqing Tian0Jingjing Tang1Lihong Wang2Jiaojiao Liu3Xiangshan Li4Zhuozhuo Cao5Zhufang Tian6Department of Endocrinology, Xi’an Central HospitalDepartment of Endocrinology, Xi’an Central HospitalDepartment of Endocrinology, Xi’an Central HospitalDepartment of Endocrinology, Xi’an Central HospitalDepartment of Endocrinology, Xi’an Central HospitalDepartment of Endocrinology, Xi’an Central HospitalDepartment of Endocrinology, Xi’an Central HospitalAbstract 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.https://doi.org/10.1186/s12902-023-01455-7Idiopathic hypogonadotropic hypogonadismGonadotropin-releasing hormone 1Delayed puberty |
| spellingShingle | Qingqing Tian Jingjing Tang Lihong Wang Jiaojiao Liu Xiangshan Li Zhuozhuo Cao Zhufang Tian Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report BMC Endocrine Disorders Idiopathic hypogonadotropic hypogonadism Gonadotropin-releasing hormone 1 Delayed puberty |
| title | Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report |
| title_full | Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report |
| title_fullStr | Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report |
| title_full_unstemmed | Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report |
| title_short | Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report |
| title_sort | idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the gnrh1 gene a case report |
| topic | Idiopathic hypogonadotropic hypogonadism Gonadotropin-releasing hormone 1 Delayed puberty |
| url | https://doi.org/10.1186/s12902-023-01455-7 |
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