{"title":"GH/IGF轴的基因突变。","authors":"Sabina Domené, Horacio M Domené","doi":"10.17458/per.vol16.2018.dd.geneticmutationsghigf","DOIUrl":null,"url":null,"abstract":"<p><p>The GH/IGF axis plays an important role in the control of pre and postnatal growth. At least 48 monogenic defects have been described affecting the production, secretion, and action of GH and IGFs. Molecular defects of the GH/IGF axis resulting in short stature were arbitrarily classified into 4 groups: 1. Combined pituitary hormone deficiency (CPHD) (a. syndromic CPHD and b. non-syndromic CPHD), 2. Isolated GH deficiency (IGHD), 3. GH insensitivity, and 4. IGF-I insensitivity. Genetic diagnosis is obtained in about 30-40% of children with growth retardation, severe IGHD, CPHD, apparent GH or IGF-I insensitivity, and small for gestational age. Increased accessibility to next generation sequencing (NGS) techniques resulted in a significant number of likely pathogenic variants in genes previously associated with short stature as well as in completely novel genes. Functional in vitro assays and in vivo animal models are required to determine the real contribution of these findings.</p>","PeriodicalId":19827,"journal":{"name":"Pediatric endocrinology reviews : PER","volume":"16 Suppl 1","pages":"39-62"},"PeriodicalIF":0.0000,"publicationDate":"2018-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"14","resultStr":"{\"title\":\"Genetic Mutations in the GH/IGF Axis.\",\"authors\":\"Sabina Domené, Horacio M Domené\",\"doi\":\"10.17458/per.vol16.2018.dd.geneticmutationsghigf\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The GH/IGF axis plays an important role in the control of pre and postnatal growth. At least 48 monogenic defects have been described affecting the production, secretion, and action of GH and IGFs. Molecular defects of the GH/IGF axis resulting in short stature were arbitrarily classified into 4 groups: 1. Combined pituitary hormone deficiency (CPHD) (a. syndromic CPHD and b. non-syndromic CPHD), 2. Isolated GH deficiency (IGHD), 3. GH insensitivity, and 4. IGF-I insensitivity. Genetic diagnosis is obtained in about 30-40% of children with growth retardation, severe IGHD, CPHD, apparent GH or IGF-I insensitivity, and small for gestational age. Increased accessibility to next generation sequencing (NGS) techniques resulted in a significant number of likely pathogenic variants in genes previously associated with short stature as well as in completely novel genes. Functional in vitro assays and in vivo animal models are required to determine the real contribution of these findings.</p>\",\"PeriodicalId\":19827,\"journal\":{\"name\":\"Pediatric endocrinology reviews : PER\",\"volume\":\"16 Suppl 1\",\"pages\":\"39-62\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"14\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric endocrinology reviews : PER\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.17458/per.vol16.2018.dd.geneticmutationsghigf\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric endocrinology reviews : PER","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.17458/per.vol16.2018.dd.geneticmutationsghigf","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
The GH/IGF axis plays an important role in the control of pre and postnatal growth. At least 48 monogenic defects have been described affecting the production, secretion, and action of GH and IGFs. Molecular defects of the GH/IGF axis resulting in short stature were arbitrarily classified into 4 groups: 1. Combined pituitary hormone deficiency (CPHD) (a. syndromic CPHD and b. non-syndromic CPHD), 2. Isolated GH deficiency (IGHD), 3. GH insensitivity, and 4. IGF-I insensitivity. Genetic diagnosis is obtained in about 30-40% of children with growth retardation, severe IGHD, CPHD, apparent GH or IGF-I insensitivity, and small for gestational age. Increased accessibility to next generation sequencing (NGS) techniques resulted in a significant number of likely pathogenic variants in genes previously associated with short stature as well as in completely novel genes. Functional in vitro assays and in vivo animal models are required to determine the real contribution of these findings.
期刊介绍:
PEDIATRIC ENDOCRINOLOGY REVIEWS (PER) publishes scholarly review articles in all areas of clinical and experimental Endocrinology, Diabetes, Nutrition and Metabolism. PER is intended for practicing pediatricians, pediatric endocrinologists, pediatric diabetologists, pediatric gastroenterologists, neonatologists, pediatric gynecologists, nutritionists, sport physicians and pediatricians-in-training.
PER will also publish topics on specific subjects or as proceedings of scientific meetings in the above fields of interest. All articles, whether invited or direct contributions, are peer-reviewed. PER publishes correspondence, book reviews, a meeting calendar and meeting reports.