Malhotra Rakhi, Shukla Rashmi, Rastogi Vandana, Khadgawat Rajesh
Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.
Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Diabetes Metab Syndr. 2023 Feb;17(2):102708. doi: 10.1016/j.dsx.2023.102708. Epub 2023 Jan 14.
Subjects with Turner syndrome (TS) are at increased risk of metabolic disorders. The objective of this study is to evaluate the prevalence of metabolic abnormalities in TS and compare the metabolic profiles of subjects with respect to their X chromosome dosage.
Sixty-four TS subjects with a mean age of 19 ± 4.9 years were included, and the prevalence of metabolic abnormalities was assessed. Out of these, 54 age and body mass index-matched TS subjects were divided into two groups based on karyotype: 45,X and 45,X/46,XX (group I; n = 33) and 46,X,i(X)(q10) and 45,X/46,X,i(X)(q10) (group II; n = 21). They were compared for blood pressure, fasting plasma glucose, homeostasis model assessment (HOMA) of insulin resistance (IR) and β cell function (HOMA-β), lipid profile, and percent total body fat mass (PTBFM) to assess if an extra copy of Xq contributes to a different metabolic profile.
The prevalence of impaired fasting glucose was 7.8%. 12% of subjects had higher systolic blood pressure (SBP), and 16% had higher diastolic blood pressure for age. 53% had a deranged lipid profile. Significant differences were noted in the two groups, with higher prevalence in group II vs. group I for SBP (p = 0.03), low-density lipoprotein cholesterol (LDL-c) (p = 0.03), and PTBFM (p = 0.02). When we applied a multiple regression analysis for these outcome variables while adjusting for potential confounders known to influence the cardiometabolic risk profile in TS, karyotype no longer remained a significant independent variable.
Extra copies of Xq do not contribute to an adverse metabolic risk profile.
特纳综合征（TS）患者患代谢紊乱的风险增加。本研究的目的是评估TS患者代谢异常的患病率，并比较不同X染色体剂量患者的代谢谱。
纳入64例平均年龄为19±4.9岁的TS患者，评估代谢异常的患病率。其中，54例年龄和体重指数匹配的TS患者根据核型分为两组：45,X和45,X/46,XX（第一组；n = 33）以及46,X,i(X)(q10)和45,X/46,X,i(X)(q10)（第二组；n = 21）。比较两组患者的血压、空腹血糖、胰岛素抵抗（IR）和β细胞功能的稳态模型评估（HOMA-β）、血脂谱以及全身脂肪量百分比（PTBFM），以评估额外的Xq拷贝是否会导致不同的代谢谱。
空腹血糖受损的患病率为7.8%。12%的患者收缩压（SBP）较高，16%的患者舒张压高于同龄人。53%的患者血脂谱异常。两组之间存在显著差异，第二组的SBP（p = 0.03）、低密度脂蛋白胆固醇（LDL-c）（p = 0.03）和PTBFM（p = 0.
