Medical and gynecological comorbidities in adult women with Turner syndrome: our multidisciplinary clinic experience

Abstract

Objective: Women with Turner syndrome (TS) are at increased risk for chronic health conditions. Reports describing the presence of comorbidities in older adult women with TS are limited. This study aimed to examine the prevalence of endocrine, gynecological, and other chronic medical conditions in a cohort of adult TS patients.

Methods: A retrospective chart review was conducted on patients seen between 1 February 2015 and 1 July 2018 in a multidisciplinary TS clinic at a university-based ambulatory hospital in Toronto, Canada. All women seen at the TS clinic with a diagnosis of TS aged >18 years were included. The prevalence of diseases was determined overall and stratified by age (<40 and ≥40 years). Statistical comparisons were done using the chi-square test. The main study outcomes included the presence of comorbidities.

Results: Of 122 adult women with TS, 24.5% had hypothyroidism, 16% had dysglycemia, and 27.9% had decreased bone mass. Hypothyroidism and dysglycemia were more common among older women (respectively age ≥40 years vs. age <40 years: 36.7% vs. 17.8%, p = 0.018; and 24.5% vs. 5.5%, p = 0.023). Gynecological conditions were identified in 35% of patients and were more common among older women (42.8% age ≥40 years vs. 13.7% age <40 years, p = 0.003). Overall, 41% had hearing impairment, 36.1% had cardiac abnormalities, 14.8% had hypertension, 18.8% had renal abnormalities, and 9% had celiac disease.

Conclusions: The results of this study indicate a high prevalence of medical conditions in women with TS, especially those ≥40 years of age. Our study underscores the importance of multidisciplinary adult TS clinics for ongoing screening and management of comorbidities.

摘要

目的：Turner综合征（TS）女性慢性病发生风险增加。关于患TS的成年女性合并症的报道是有限的。本研究的目的是检查成年TS患者队列内分泌、妇科和其他慢性疾病的患病率。

方法：对2015年2月1日至2018年7月1日之间在加拿大多伦多的一家大学门诊医院的多学科TS门诊就诊的TS患者进行了回顾性图表审查。纳入所有在TS诊所看过且诊断为TS的年龄大于18岁的女性。总体上确定疾病的患病率, 并按年龄（<40岁和≥40岁）进行分层。采用卡方检验进行统计学比较, 主要研究结果包括合并症的发生。

结果：在122名TS成年女性中, 甲状腺功能减退症占24.5％, 血糖代谢障碍占16％, 骨量减少占27.9％。 甲状腺功能减退和血糖代谢异常在年长女性中更为常见（分别为≥40岁vs. <40岁：36.7％vs. 17.8％, p = .018； 24.5％vs. 5.5％, p = .023）。在35％的患者中发现了妇科疾病, 并且在年长女性中更为常见（≥40岁的女性占42.8％, <40岁的女性占13.7％, p = .003）。总体而言, 有41％的人患有听力障碍, 有36.1％的人患有心脏异常, 有14.8％的人患有高血压, 有18.8％的人有肾脏异常, 有9％的人有乳糜泻。

结论：本研究结果表明, TS女性, 尤其是≥40岁的女性, 其内科疾病发病率高。我们的研究强调了多学科的成人TS门诊对于持续筛查和管理合并症的重要性。

Keywords:

• Turner syndrome
• medical comorbidities
• multidisciplinary clinic model

Potential conflict of interest

MF, CB, CK, LA, and ICL have nothing to declare. MJ received speaking honoraria for Allergan, Pfizer, and Merck. WW received a grant support from Pfizer, has been on the advisory board for Searchlight, Aerius, and Pfizer, and has spoken for Pfizer.

Source of funding

None.