Circadian blood pressure profiles and ambulatory arterial stiffness index in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes

Neuro Endocrinol Lett. 2017 Dec;38(7):509-518.

Abstract

Objective: Lifelong steroid therapy and exposure to adrenal androgen excess in 21-hydroxylase deficient (21-OHD) congenital adrenal hyperplasia (CAH) children and adolescents may modify circadian blood pressure profile and result in vascular complications. The objective of the study was to evaluate vascular abnormalities in 21-OHD children and adolescents in relation to their genotypes.

Design: A cross-sectional study conducted at a tertiary referral center.

Patients: Seventy patients with 21-OHD CAH (27 boys), aged from 3 to 17.9 years: 9 with nonclassic CAH, 61 with classic CAH: 10 with simple virilising (SV) and 51 with salt wasting CAH (13-Del/Del, 8-Del/I2G, 7-I2G/I2G and 23-other genotypes).

Main outcomes measures: The assessment of systolic and diastolic BP (SBP, DBP) loads, night dip% and arterial ambulatory stiffness index (AASI) in 21-OHD CAH patients.

MeSH terms

  • Adolescent
  • Adrenal Hyperplasia, Congenital / blood
  • Adrenal Hyperplasia, Congenital / genetics
  • Adrenal Hyperplasia, Congenital / physiopathology*
  • Blood Pressure / genetics
  • Blood Pressure / physiology*
  • Child
  • Child, Preschool
  • Circadian Rhythm / genetics
  • Circadian Rhythm / physiology*
  • Female
  • Genotype*
  • Humans
  • Hydrocortisone / blood
  • Male
  • Sex Hormone-Binding Globulin / metabolism
  • Testosterone / blood
  • Vascular Stiffness / genetics
  • Vascular Stiffness / physiology*

Substances

  • Sex Hormone-Binding Globulin
  • Testosterone
  • Hydrocortisone

Supplementary concepts

  • Congenital adrenal hyperplasia due to 21 hydroxylase deficiency