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A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene
RATIONALE: This study aimed to investigate the genetic mutation characteristics of congenital idiopathic hypogonadotropic hypogonadism (IHH) through the clinical features and genetic analysis of 2 patients with IHH in 1 pedigree. PATIENT CONCERNS: A 23-year-old girl presented with primary amenorrhea...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7870162/ https://www.ncbi.nlm.nih.gov/pubmed/33592857 http://dx.doi.org/10.1097/MD.0000000000024007 |
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author | Wang, Liping Lin, Weisheng Li, Xiaohong Zhang, Lijuan Wang, Kai Cui, Xiaoli Tang, Shanmei Fang, Guangguang Tan, Yan Wang, Xuelai Chen, Chuan Yang, Chuanchun Tang, Huiru |
author_facet | Wang, Liping Lin, Weisheng Li, Xiaohong Zhang, Lijuan Wang, Kai Cui, Xiaoli Tang, Shanmei Fang, Guangguang Tan, Yan Wang, Xuelai Chen, Chuan Yang, Chuanchun Tang, Huiru |
author_sort | Wang, Liping |
collection | PubMed |
description | RATIONALE: This study aimed to investigate the genetic mutation characteristics of congenital idiopathic hypogonadotropic hypogonadism (IHH) through the clinical features and genetic analysis of 2 patients with IHH in 1 pedigree. PATIENT CONCERNS: A 23-year-old girl presented with primary amenorrhea, sparse pubic hair, lack of breast development, and delayed sexual development. DIAGNOSES: Combined with the clinical characteristics, auxiliary examinations, and molecular genetic analysis, the patient was diagnosed as IHH. INTERVENTIONS: Whole exome and Sanger sequencing were performed to validate the mutation in family members. OUTCOMES: A novel homozygous missense mutation c.521A > G (p.Q174R) in the GNRHR gene was identified in the 2 affected sisters. Familial segregation showed that the homozygous variant was inherited from their parents respectively and the eldest sister was the carrier without correlative symptom. LESSONS: We reported a novel GNRHR mutation in a pedigree with congenital idiopathic hypogonadotropic hypogonadism. Glutamine at amino acid position 174 was highly conserved among various species. The molecular structure of GNRHR protein showed that p.Q174R mutation brought in a new stable hydrogen bond between position 174 and 215, may impede conformational mobility of the TMD4 and TMD5. It suggests that the missense mutation c.521A > G related to congenital idiopathic hypogonadotropic hypogonadism was probably a causative factor for both sisters. Through high-throughput sequencing and experimental verification, we had basically determined the patient's pathogenic mutation and inheritance, which could better guide doctors for treatment. |
format | Online Article Text |
id | pubmed-7870162 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Lippincott Williams & Wilkins |
record_format | MEDLINE/PubMed |
spelling | pubmed-78701622021-02-10 A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene Wang, Liping Lin, Weisheng Li, Xiaohong Zhang, Lijuan Wang, Kai Cui, Xiaoli Tang, Shanmei Fang, Guangguang Tan, Yan Wang, Xuelai Chen, Chuan Yang, Chuanchun Tang, Huiru Medicine (Baltimore) 3500 RATIONALE: This study aimed to investigate the genetic mutation characteristics of congenital idiopathic hypogonadotropic hypogonadism (IHH) through the clinical features and genetic analysis of 2 patients with IHH in 1 pedigree. PATIENT CONCERNS: A 23-year-old girl presented with primary amenorrhea, sparse pubic hair, lack of breast development, and delayed sexual development. DIAGNOSES: Combined with the clinical characteristics, auxiliary examinations, and molecular genetic analysis, the patient was diagnosed as IHH. INTERVENTIONS: Whole exome and Sanger sequencing were performed to validate the mutation in family members. OUTCOMES: A novel homozygous missense mutation c.521A > G (p.Q174R) in the GNRHR gene was identified in the 2 affected sisters. Familial segregation showed that the homozygous variant was inherited from their parents respectively and the eldest sister was the carrier without correlative symptom. LESSONS: We reported a novel GNRHR mutation in a pedigree with congenital idiopathic hypogonadotropic hypogonadism. Glutamine at amino acid position 174 was highly conserved among various species. The molecular structure of GNRHR protein showed that p.Q174R mutation brought in a new stable hydrogen bond between position 174 and 215, may impede conformational mobility of the TMD4 and TMD5. It suggests that the missense mutation c.521A > G related to congenital idiopathic hypogonadotropic hypogonadism was probably a causative factor for both sisters. Through high-throughput sequencing and experimental verification, we had basically determined the patient's pathogenic mutation and inheritance, which could better guide doctors for treatment. Lippincott Williams & Wilkins 2021-02-05 /pmc/articles/PMC7870162/ /pubmed/33592857 http://dx.doi.org/10.1097/MD.0000000000024007 Text en Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by/4.0 This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0 |
spellingShingle | 3500 Wang, Liping Lin, Weisheng Li, Xiaohong Zhang, Lijuan Wang, Kai Cui, Xiaoli Tang, Shanmei Fang, Guangguang Tan, Yan Wang, Xuelai Chen, Chuan Yang, Chuanchun Tang, Huiru A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene |
title | A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene |
title_full | A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene |
title_fullStr | A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene |
title_full_unstemmed | A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene |
title_short | A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene |
title_sort | case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of gnrhr gene |
topic | 3500 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7870162/ https://www.ncbi.nlm.nih.gov/pubmed/33592857 http://dx.doi.org/10.1097/MD.0000000000024007 |
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