Rothbauer J, Driver S, Callender L
Lymphology. 2015 Sep;48(3):139-52.
Turner syndrome (TS) is a chromosomal condition affecting an estimated 1 in 2,500 girls where the second X chromosome is missing, or partially formed. This abnormality affects multiple body systems and can lead to short stature, cardiac, neural, and renal abnormalities. Due to the chronic, non-life threatening nature of lymphedema in comparison to other symptoms of TS, it is often ignored by girls and women with TS and their physicians. Consequently, little is known about how lymphedema affects girls and women with TS across the lifespan. Therefore, the objective of the study was to deliver an online survey for females with TS and caregivers in the US, UK, and Canada to provide a worldwide perspective on their current experience with lymphedema within the spectrum of TS. There were 219 participants who completed the survey, and we were able to identify incidence and characteristics of lymphedema across the lifespan. In addition, we found that females with 45,X karyotyping were more likely to report lymphedema symptoms. Lymphedema is not the most significant concern of females with TS, but education, physician evaluation, and assistance with referrals for treatment and management would improve the ease of managing lymphedema in girls and women with TS.
特纳综合征（TS）是一种染色体疾病，每2500名女孩中约有1人受其影响，其第二条X染色体缺失或部分形成异常。这种异常会影响多个身体系统，并可能导致身材矮小、心脏、神经和肾脏异常。与特纳综合征的其他症状相比，由于淋巴水肿具有慢性、不危及生命的特点，患有特纳综合征的女孩和女性及其医生常常会忽视它。因此，对于淋巴水肿如何在整个生命周期中影响患有特纳综合征的女孩和女性，人们知之甚少。所以，该研究的目的是为美国、英国和加拿大患有特纳综合征的女性及其护理人员开展一项在线调查，以提供关于她们目前在特纳综合征范围内淋巴水肿经历的全球视角。有219名参与者完成了调查，我们得以确定淋巴水肿在整个生命周期中的发病率和特征。此外，我们发现核型为45,X的女性更有可能报告淋巴水肿症状。淋巴水肿并非患有特纳综合征女性最主要的担忧，但教育、医生评估以及治疗和管理转诊方面的协助将改善患有特纳综合征的女孩和女性管理淋巴水肿的便利性。
