Kanakatti Shankar Roopa, Gravholt Claus H, Backeljauw Philippe F
Division of Endocrinology, Children's National Hospital, Washington, DC, USA.
The George Washington University School of Medicine, Washington, DC, USA.
Am J Med Genet C Semin Med Genet. 2025 Mar;199(1):e32124. doi: 10.1002/ajmg.c.32124. Epub 2024 Nov 29.
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.
特纳综合征在近90年前就被确认为一种独特的病症，随着治疗目标的变化，对其病理生理学和表型的认识也在逐步且显著地改变。如今，多学科护理势在必行，最新的国际共识指南已经制定出来，作为特纳综合征患者一生中跨学科护理全面实用建议的来源。我们回顾了特纳综合征医疗保健的发展历程，同时突出了最近发表的关于特纳综合征女孩和女性护理的国际共识指南中的新建议。
