{"title":"Genetics of female and male infertility.","authors":"Corinna Friedrich, Frank Tüttelmann","doi":"10.1515/medgen-2024-2040","DOIUrl":null,"url":null,"abstract":"<p><p>Infertility is defined as the inability to conceive within one year of unprotected intercourse, and the causes are equally distributed between both sexes. Genetics play a crucial role in couple infertility and respective diagnostic testing should follow available guidelines. Appropriate tiered genetic analyses require comprehensive physical examination of both partners in an infertile couple. A wide range of chromosomal and monogenic variants can be the underlying genetic cause of infertility in both women and men. Accurate clinical phenotyping, together with identification of the genetic origin, helps to recommend the proper treatment and to counsel couples on the success rates and potential risks for offspring.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1000,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380935/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medizinische Genetik","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1515/medgen-2024-2040","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/9/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Infertility is defined as the inability to conceive within one year of unprotected intercourse, and the causes are equally distributed between both sexes. Genetics play a crucial role in couple infertility and respective diagnostic testing should follow available guidelines. Appropriate tiered genetic analyses require comprehensive physical examination of both partners in an infertile couple. A wide range of chromosomal and monogenic variants can be the underlying genetic cause of infertility in both women and men. Accurate clinical phenotyping, together with identification of the genetic origin, helps to recommend the proper treatment and to counsel couples on the success rates and potential risks for offspring.
期刊介绍：
medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter.
medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community.
In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.
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