Savas Mesut, Wester Vincent L, Dykgraaf Ramon H M, van den Akker Erica L T, Roos-Hesselink Jolien W, Dessens Arianne B, de Graaff Laura C G, de Rijke Yolanda B, van Rossum Elisabeth F C
Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, CA Rotterdam, Netherlands.
Obesity Center Centrum Gezond Gewicht, Erasmus MC, University Medical Center Rotterdam, CA Rotterdam, Netherlands.
J Clin Endocrinol Metab. 2019 Sep 1;104(9):3859-3867. doi: 10.1210/jc.2019-00148.
Turner syndrome (TS) usually manifests in traits as short stature and premature ovarian failure. Many patients also have an increased risk of cardiometabolic disorders and psychological distress, which are features that overlap with those of a prolonged state of hypercortisolism.
To investigate whether TS is associated with increased long-term cortisol concentrations as measured in scalp hair and whether these are linked to cardiometabolic and psychological parameters.
Prospective observational case-control study.
Academic outpatient TS expertise center.
Fifty-five patients with TS (53% 45,X karyotype), and 110 age-matched female community control subjects from the general population-based Lifelines cohort study.
Hair cortisol concentrations (HCC), anthropometrics, biochemical parameters, and psychological questionnaires for perceived stress (Perceived Stress Scale-14), fatigue (Checklist Individual Strength-20), and health-related quality of life (RAND-36).
Compared with control subjects, patients with TS had higher HCC [geometric mean, 3.51 pg/mg (95% CI, 2.64 to 4.65) vs 2.39 pg/mg (2.13 to 2.68); P = 0.003] and a worse cardiometabolic profile in terms of fasting glucose, and triglycerides. HCC was only associated with total cholesterol levels (standardized β = 0.294; P = 0.047) and was not associated with the psychological outcomes. A higher HCC was inversely associated with height only in patients with TS (standardized β = -0.307; P = 0.023).
Patients with TS are chronically exposed to higher cortisol levels, which is associated with short stature and increased total cholesterol levels, and potentially contributes to the known elevated cardiovascular disease risk.
特纳综合征（TS）通常表现为身材矮小和卵巢早衰等特征。许多患者还存在心脏代谢紊乱和心理困扰风险增加的情况，这些特征与长期皮质醇增多状态的特征重叠。
研究TS是否与头皮毛发中测量的长期皮质醇浓度升高有关，以及这些浓度是否与心脏代谢和心理参数相关。
前瞻性观察性病例对照研究。
学术性门诊TS专业中心。
55例TS患者（53%为45,X核型），以及来自基于人群的生命线队列研究的110名年龄匹配的女性社区对照受试者。
毛发皮质醇浓度（HCC）、人体测量学指标、生化参数以及感知压力（感知压力量表-14）、疲劳（个人力量清单-20）和健康相关生活质量（兰德-36）的心理问卷。
与对照受试者相比，TS患者的HCC更高[几何平均数，3.51 pg/mg（95%CI，2.64至4.65）对2.39 pg/mg（2.13至2.68）；P = 0.003]，并且在空腹血糖和甘油三酯方面心脏代谢状况更差。HCC仅与总胆固醇水平相关（标准化β = 0.294；P = 0.047），与心理结果无关。仅在TS患者中，较高的HCC与身高呈负相关（标准化β = -0.307；P = 0.023）。
TS患者长期暴露于较高的皮质醇水平，这与身材矮小和总胆固醇水平升高有关，并可能导致已知的心血管疾病风险升高。
