Roopa Kanakatti Shankar, Charmian A Quigley, Tsuyoshi Isojima, Nelly Mauras, Steven D Chernausek, Malgorzata Wasniewska, Theo C J Sas
{"title":"Growth and Growth-Promoting Treatments in Turner Syndrome.","authors":"Roopa Kanakatti Shankar, Charmian A Quigley, Tsuyoshi Isojima, Nelly Mauras, Steven D Chernausek, Malgorzata Wasniewska, Theo C J Sas","doi":"10.1002/ajmg.c.32133","DOIUrl":null,"url":null,"abstract":"<p><p>Short stature is a common presenting feature and an important concern for families of children with Turner syndrome. In this review, we summarize the data that shaped the updated international consensus guidelines for Turner syndrome published in 2024. The natural history of growth in Turner syndrome, the safety and efficacy of recombinant human growth hormone therapy, and the alternate growth promoting agents under consideration are presented. Timely, adequate growth hormone therapy can counter growth failure in childhood, promote catch-up growth and help many individuals with Turner syndrome attain a near-normal adult height. However, individual responses to growth hormone treatment are highly variable and are influenced by factors such as parental heights, age, baseline height, timing of estrogen initiation and pubertal status. Shared decision making on initiation of treatment, a candid conversation regarding the modest gradual height gain resulting from growth hormone therapy, and individualization of therapeutic goals can facilitate realistic expectations of growth promoting therapy in Turner syndrome.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32133"},"PeriodicalIF":2.8000,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/ajmg.c.32133","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Short stature is a common presenting feature and an important concern for families of children with Turner syndrome. In this review, we summarize the data that shaped the updated international consensus guidelines for Turner syndrome published in 2024. The natural history of growth in Turner syndrome, the safety and efficacy of recombinant human growth hormone therapy, and the alternate growth promoting agents under consideration are presented. Timely, adequate growth hormone therapy can counter growth failure in childhood, promote catch-up growth and help many individuals with Turner syndrome attain a near-normal adult height. However, individual responses to growth hormone treatment are highly variable and are influenced by factors such as parental heights, age, baseline height, timing of estrogen initiation and pubertal status. Shared decision making on initiation of treatment, a candid conversation regarding the modest gradual height gain resulting from growth hormone therapy, and individualization of therapeutic goals can facilitate realistic expectations of growth promoting therapy in Turner syndrome.
期刊介绍:
Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.