特纳综合征医疗保健的演变。

IF 2.8 3区医学 Q2 GENETICS & HEREDITY

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-11-29 DOI:10.1002/ajmg.c.32124

Roopa Kanakatti Shankar, Claus H Gravholt, Philippe F Backeljauw

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引用次数: 0

摘要

近90年前，Turner综合征作为一种独特的疾病和病理生理学的认识被认识，表型随着治疗目标的变化而逐渐发生了实质性的变化。今天，多学科护理是势在必行的，最新的国际共识指南已被精心制作为特纳综合征患者一生中跨学科护理的综合实用建议的来源。我们回顾了特纳综合征医疗保健的发展，同时强调了最近发表的国际共识指南中关于特纳综合征女孩和妇女护理的新建议。

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Evolution of Health Care in Turner Syndrome.

Turner syndrome was recognized nearly 90 years ago as a distinctive condition and the understanding of pathophysiology, and phenotype has incrementally and substantially changed along with the goals of treatment. Today, multidisciplinary care is imperative, and the latest international consensus guideline has been crafted as a source of comprehensive practical recommendations for interdisciplinary care of individuals with Turner syndrome throughout their lifespan. We review the evolution of health care in Turner syndrome while highlighting the novel recommendations in the recently published international consensus guideline for the care of girls and women with Turner syndrome.

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来源期刊

American Journal of Medical Genetics Part C: Seminars in Medical Genetics 医学-遗传学

CiteScore

7.00

自引率

0.00%

发文量

审稿时长

>12 weeks

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.