Claudia Ramírez-Rentería (Associate Researcher) , Laura C. Hernández-Ramírez (Associate Researcher)
{"title":"Genetic diagnosis in acromegaly and gigantism: From research to clinical practice","authors":"Claudia Ramírez-Rentería (Associate Researcher) , Laura C. Hernández-Ramírez (Associate Researcher)","doi":"10.1016/j.beem.2024.101892","DOIUrl":null,"url":null,"abstract":"<div><p>It is usually considered that only 5% of all pituitary neuroendocrine tumours are due to inheritable causes. Since this estimate was reported, however, multiple genetic defects driving syndromic and nonsyndromic somatotrophinomas have been unveiled. This heterogeneous genetic background results in overlapping phenotypes of GH excess. Genetic tests should be part of the approach to patients with acromegaly and gigantism because they can refine the clinical diagnoses, opening the possibility to tailor the clinical conduct to each patient. Even more, genetic testing and clinical screening of at-risk individuals have a positive impact on disease outcomes, by allowing for the timely detection and treatment of somatotrophinomas at early stages. Future research should focus on determining the actual frequency of novel genetic drivers of somatotrophinomas in the general population, developing up-to-date disease-specific multi-gene panels for clinical use, and finding strategies to improve access to modern genetic testing worldwide.</p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":null,"pages":null},"PeriodicalIF":6.1000,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521690X24000460/pdfft?md5=1e62c7b71ee04006e4fb1c03b242b7f5&pid=1-s2.0-S1521690X24000460-main.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Best practice & research. Clinical endocrinology & metabolism","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1521690X24000460","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0
Abstract
It is usually considered that only 5% of all pituitary neuroendocrine tumours are due to inheritable causes. Since this estimate was reported, however, multiple genetic defects driving syndromic and nonsyndromic somatotrophinomas have been unveiled. This heterogeneous genetic background results in overlapping phenotypes of GH excess. Genetic tests should be part of the approach to patients with acromegaly and gigantism because they can refine the clinical diagnoses, opening the possibility to tailor the clinical conduct to each patient. Even more, genetic testing and clinical screening of at-risk individuals have a positive impact on disease outcomes, by allowing for the timely detection and treatment of somatotrophinomas at early stages. Future research should focus on determining the actual frequency of novel genetic drivers of somatotrophinomas in the general population, developing up-to-date disease-specific multi-gene panels for clinical use, and finding strategies to improve access to modern genetic testing worldwide.
期刊介绍:
Best Practice & Research Clinical Endocrinology & Metabolism is a serial publication that integrates the latest original research findings into evidence-based review articles. These articles aim to address key clinical issues related to diagnosis, treatment, and patient management.
Each issue adopts a problem-oriented approach, focusing on key questions and clearly outlining what is known while identifying areas for future research. Practical management strategies are described to facilitate application to individual patients. The series targets physicians in practice or training.