Lily Jones, Julie Park, Silothabo Dliso, Daniel B Hawcutt, Alena Shantsila, Gregory Y H Lip, Joanne Blair
{"title":"Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study.","authors":"Lily Jones, Julie Park, Silothabo Dliso, Daniel B Hawcutt, Alena Shantsila, Gregory Y H Lip, Joanne Blair","doi":"10.1002/ajmg.c.32130","DOIUrl":null,"url":null,"abstract":"<p><p>Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular function, and ambulatory blood pressure (BP). Biochemical indicators of cardiovascular risk were also measured. Data were compared to matched healthy controls (HCs) or interpreted according to reference populations. Ten patients, aged 14.1 ± 2.3 years participated. Mean SC was higher in girls with TS, although the early morning measurement was lower resulting in a flatter diurnal profile. Body mass index was > 1.0 SDS in five and muscle-to-fat ratio was low (< 0.8) in six participants. Four had proatherogenic lipid profiles and six had raised clotting and/or inflammatory markers. Mean glucose concentration was higher in TS than in HCs (109.8 vs. 102.6 mg/dL, p = 0.003). Loss of nocturnal dipping in BP was universal, and hypertension was present in three patients. TS participants had an adverse cardiovascular profile. The same cohort also exhibited increased cortisol exposure and the clinical significance of these dual findings warrants further investigation.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32130"},"PeriodicalIF":2.8000,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/ajmg.c.32130","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular function, and ambulatory blood pressure (BP). Biochemical indicators of cardiovascular risk were also measured. Data were compared to matched healthy controls (HCs) or interpreted according to reference populations. Ten patients, aged 14.1 ± 2.3 years participated. Mean SC was higher in girls with TS, although the early morning measurement was lower resulting in a flatter diurnal profile. Body mass index was > 1.0 SDS in five and muscle-to-fat ratio was low (< 0.8) in six participants. Four had proatherogenic lipid profiles and six had raised clotting and/or inflammatory markers. Mean glucose concentration was higher in TS than in HCs (109.8 vs. 102.6 mg/dL, p = 0.003). Loss of nocturnal dipping in BP was universal, and hypertension was present in three patients. TS participants had an adverse cardiovascular profile. The same cohort also exhibited increased cortisol exposure and the clinical significance of these dual findings warrants further investigation.
期刊介绍:
Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.