Cardio-metabolic risk factors in youth with classical 21-hydroxylase deficiency

Eur J Pediatr. 2017 Apr;176(4):537-545. doi: 10.1007/s00431-017-2875-2. Epub 2017 Feb 21.

Abstract

Patients with congenital adrenal hyperplasia (CAH) appear to have adverse cardiovascular risk profile and other long-term health problems in adult life, but there are limited data in young CAH patients. We aim to evaluate the cardio-metabolic risk factors in adolescents and young adults with classical 21-hydroxylase deficiency (21-OHD). We performed a cross-sectional study of 21 patients (17 females) with classic CAH detected clinically and not through newborn screening, aged 15.2 ± 5.8 years, and 21 healthy matched controls. Anthropometric, biochemical, inflammatory markers, and body composition using dual-energy X-ray absorptiometry were measured. Obesity was observed in 33% of the CAH patients. The waist/hip ratio and waist/height ratio were significantly higher in CAH patients. Five out of 21 patients (24%) had elevated blood pressure. Silent diabetes was diagnosed in one patient (4.8%), but none in the control group. Serum leptin and interleukin-6 levels were not different between groups, but hs-CRP levels tended to be higher in CAH patients. Other metabolic profiles and body composition were similar in CAH and controls.

Conclusion: Adolescents and young adults with CAH appear to have an increased risk of obesity and cardio-metabolic risk factors. Close monitoring, early identification, and secondary prevention should be implemented during pediatric care to improve the long-term health outcomes in CAH patients. What is Known: • Lifelong glucocorticoid (GC) replacement is the main treatment modality in patients with congenital adrenal hyperplasia which predispose to an adverse metabolic profile. • Adult CAH patients have adverse cardiovascular risk profile and other long-term health problems. What is New: • Adolescents and young adults with CAH appear to have an increased risk of obesity and cardio-metabolic risk factors.

Keywords: Adolescent; Body composition; Cardiovascular risk factors; Congenital adrenal hyperplasia; Metabolic syndrome.

MeSH terms

  • Adolescent
  • Adrenal Hyperplasia, Congenital / complications*
  • Adrenal Hyperplasia, Congenital / metabolism
  • Body Composition
  • Cardiovascular Diseases / etiology*
  • Case-Control Studies
  • Child
  • Cross-Sectional Studies
  • Female
  • Humans
  • Leptin / blood
  • Male
  • Metabolic Syndrome / etiology*
  • Obesity / complications*
  • Risk Factors
  • Young Adult

Substances

  • Leptin

Supplementary concepts

  • Congenital adrenal hyperplasia due to 21 hydroxylase deficiency