PDF(Pubmed)
Abstract：
BACKGROUND: Turner syndrome (TS) is a rare chromosomal disorder characterized by gonadal dysfunction, short stature, and heart defects, among other features. Women with TS often suffer from severe fatigue, for which they are typically referred to endocrinologists. The diagnostic work-up is generally time-consuming and invasive, and it rarely solves the problem. To prevent the personal and financial burden of unnecessary diagnostic procedures, it is crucial to understand fatigue in TS.
OBJECTIVE: To explore the association between fatigue and endocrine and non-endocrine comorbidities in a-for rare disorders-large group of women with TS.
METHODS: 170 genetically confirmed women with TS who attended the TS Reference Center underwent a systematic health screening, including a structured interview, complete physical examination, biochemical measurements, perceived stress and fatigue questionnaires, and additional tests when indicated.
RESULTS: Median (interquartile range) age was 32.6 (23.9-41.4) years. Severe fatigue was experienced by 1 in 3 women with TS. Liver enzyme disturbances and body mass index were significantly associated with higher fatigue scores. Perceived stress was highly correlated with fatigue.
CONCLUSIONS: There was no association between fatigue and most endocrine and non-endocrine disorders, which implies that fatigue is only partly explained by somatic disorders. The high correlation between perceived stress and fatigue suggests that TS-related neuropsychological processes may play an important role in the etiology of fatigue in women with TS. We provide a practical algorithm for the endocrine, non-endocrine, and psychological approach to fatigue in women with TS.
OBJECTIVE: To explore the association between fatigue and endocrine and non-endocrine comorbidities in a-for rare disorders-large group of women with TS.
METHODS: 170 genetically confirmed women with TS who attended the TS Reference Center underwent a systematic health screening, including a structured interview, complete physical examination, biochemical measurements, perceived stress and fatigue questionnaires, and additional tests when indicated.
RESULTS: Median (interquartile range) age was 32.6 (23.9-41.4) years. Severe fatigue was experienced by 1 in 3 women with TS. Liver enzyme disturbances and body mass index were significantly associated with higher fatigue scores. Perceived stress was highly correlated with fatigue.
CONCLUSIONS: There was no association between fatigue and most endocrine and non-endocrine disorders, which implies that fatigue is only partly explained by somatic disorders. The high correlation between perceived stress and fatigue suggests that TS-related neuropsychological processes may play an important role in the etiology of fatigue in women with TS. We provide a practical algorithm for the endocrine, non-endocrine, and psychological approach to fatigue in women with TS.
摘要：
背景：特纳综合征（TS）是一种罕见的染色体疾病，以性腺功能障碍为特征，身材矮小和心脏缺陷，在其他人中。患有TS的女性经常遭受严重的疲劳，他们通常被称为内分泌学家。诊断工作通常是耗时且侵入性的，但它很少解决问题。为了防止不必要的诊断程序造成的个人和经济负担，了解TS中的疲劳至关重要。
目的：在一个罕见疾病的大群体中，探讨疲劳与内分泌和非内分泌合并症之间的关系。
方法：170名在TS参考中心就诊的经遗传证实的TS女性接受了系统的健康筛查，包括结构化面试,全面体检,生化测量，感知压力和疲劳问卷和额外的测试，当指示。
结果：中位年龄（IQR）为32.6（23.9-41.4）岁。三分之一的TS女性经历了严重的疲劳。肝酶紊乱和体重指数与较高的疲劳评分显着相关。感知压力与疲劳高度相关。
结论：疲劳与大多数内分泌和非内分泌疾病之间没有关联，这意味着疲劳只能部分由躯体疾病解释。感知压力与疲劳之间的高度相关性表明，与TS相关的神经心理过程可能在TS女性疲劳的病因中起重要作用。我们提供了一种实用的内分泌算法，女性TS疲劳的非内分泌和心理方法。
目的：在一个罕见疾病的大群体中，探讨疲劳与内分泌和非内分泌合并症之间的关系。
方法：170名在TS参考中心就诊的经遗传证实的TS女性接受了系统的健康筛查，包括结构化面试,全面体检,生化测量，感知压力和疲劳问卷和额外的测试，当指示。
结果：中位年龄（IQR）为32.6（23.9-41.4）岁。三分之一的TS女性经历了严重的疲劳。肝酶紊乱和体重指数与较高的疲劳评分显着相关。感知压力与疲劳高度相关。
结论：疲劳与大多数内分泌和非内分泌疾病之间没有关联，这意味着疲劳只能部分由躯体疾病解释。感知压力与疲劳之间的高度相关性表明，与TS相关的神经心理过程可能在TS女性疲劳的病因中起重要作用。我们提供了一种实用的内分泌算法，女性TS疲劳的非内分泌和心理方法。
