Cardiovascular risk factors in Turner syndrome

Rom J Intern Med. 2004;42(2):371-9.


Turner syndrome is due to haploinsufficiency of X chromosome genes that escape inactivation and associates female phenotype, short stature, gonadal dysgenesis, somatic stigmata, cardiovascular and renal anomalies and a large spectrum of other disorders (autoimmune thyroiditis, osteoporosis, inflammatory bowel disease, chronic liver diseases). The increased mortality in Turner syndrome is primarily a result of its cardiovascular complications. Congenital cardiac anomalies (coarctation of the aorta, bicuspid aortic valve, anomalous venous drainage) are present in 23-40% of patients; there is an increased risk of aortic dilation (42%) and dissection, ischemic heart disease and the risk of hypertension is increased three fold. In addition, insulin resistance may be present in up to 50% of women with Turner syndrome and an atherogenic lipid profile (increased cholesterol, triglycerides) favors the development of coronary artery disease. Our study was aimed to reveal anomalies in Turner syndrome that may increase cardiovascular risk. We studied a group of 62 Turner patients aged 16-67 years (mean age 26.8 years, SD = 11.1 years) comparatively to 62 age matched controls. Glycemia over 100 mg% was found in 11.3% of Turner patients vs 1.6% of controls and cholesterolemia over 200mg% was found in 51.2% of Turner patients vs 14.5% of controls; 24.2% of Turner patients were overweight vs 17.8% of controls and 6.4% were obese vs 4.8% of controls. In the Turner group we found congenital cardiac anomalies in 17.8%, hypertension in 6.5%, renal anomalies 11.3%, and hypothyroidism 29.2%.

Publication types

  • Evaluation Study

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Aged
  • Biomarkers / blood
  • Blood Glucose / metabolism
  • Body Height / genetics
  • Body Mass Index
  • Cardiovascular Diseases / epidemiology*
  • Cardiovascular Diseases / etiology*
  • Case-Control Studies
  • Cholesterol / blood
  • Female
  • Haplotypes
  • Homeodomain Proteins / genetics
  • Humans
  • Insulin Resistance
  • Middle Aged
  • Obesity / complications
  • Obesity / epidemiology
  • Obesity / genetics
  • Risk Factors
  • Short Stature Homeobox Protein
  • Transcription Factors / genetics
  • Turner Syndrome / complications*
  • Turner Syndrome / epidemiology*
  • Turner Syndrome / genetics


  • Biomarkers
  • Blood Glucose
  • Homeodomain Proteins
  • SHOX protein, human
  • Short Stature Homeobox Protein
  • Transcription Factors
  • Cholesterol