Background: Turner syndrome (TS) is the most common chromosomal abnormality in females and is associated with several co-morbidities. It commonly results from X monosomy which is diagnosed on a 30 cell karyotype. Congenital heart disease is a clinical feature in 30% of cases. It is becoming evident that TS patients have an increased risk of cardiovascular and cerebrovascular diseases.
Scope of review: This review provides a detailed overview of the literature surrounding cardiometabolic health in childhood and adolescent TS. In addition, the review also summarises the current data on the impact of growth hormone (GH) therapy on cardiometabolic risk in paediatric TS patients.
Major conclusions: Current epidemiological evidence suggests that young women and girls with TS have unfavourable cardiometabolic risk factors which predispose them to adverse cardiac and cerebrovascular outcomes in young adulthood. It remains unclear whether this risk is the result of unidentified factors which are intrinsic to TS, or whether modifiable risk factors (obesity, hypertension, hyperglycaemia) are contributing to this risk.
General significance: From a clinical perspective, this review highlights the importance of regular screening and pro-active management of cardiometabolic risk from childhood in TS cohorts and that future research should aim to address whether modification of these variables at a young age can alter the disease process and atherosclerotic outcomes in adulthood.
Keywords: ABPM, ambulatory blood pressure monitor; BMI, body-mass index; BP, blood pressure; BSA, body surface area; Cardiometabolic risk; DBP, diastolic blood pressure; DXA, dual energy X-ray scan; FM, fat mass; GH, growth hormone; Glucose intolerance; HDLc, high density lipoprotein cholesterol; HOMA-IR, homeostatic model assessment-insulin resistance; Hyperlipidemia; Hypertension; ISSI-2, insulin secretion-sensitivity index-2; IVGTT, intravenous glucose tolerance test; LBM, lean body mass; LDLc, low density lipoprotein cholesterol; MRI, magnetic resonance scanning; MetS, metabolic syndrome; OGTT, oral glucose tolerance test; PAT, peripheral arterial tonometry; Paediatrics; T2DM, type 2 diabetes; TS, Turner syndrome; Turner syndrome; cIMT, carotid intima media thickness.