Health problems in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Horm Res Paediatr. 2011;76(2):73-85. doi: 10.1159/000327794. Epub 2011 May 18.

Abstract

Following the introduction of life-saving glucocorticoid replacement 60 years ago, congenital adrenal hyperplasia (CAH) has evolved from being perceived as a paediatric disorder to being recognized as a lifelong, chronic condition affecting patients of all age groups. Increasing evidence suggests that patients with CAH have an increased risk to develop health problems during adult life, with signs and symptoms of forerunner conditions of adult disease already emerging during the time of paediatric care. Transition of paediatric CAH patients to medical care in the adult setting is an important step to ensure optimal lifelong treatment, aiming to achieve good health and normal life expectancy and quality of life. Thus, primary and secondary prevention of health problems has to become a task of increasing importance for those involved in the care of CAH patients throughout their life.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Adrenal Hyperplasia, Congenital / complications*
  • Adrenal Hyperplasia, Congenital / drug therapy
  • Adult
  • Aged
  • Body Mass Index
  • Bone Density / physiology
  • Cardiovascular Diseases / etiology
  • Child
  • Child, Preschool
  • Female
  • Glucocorticoids / administration & dosage
  • Growth / drug effects
  • Humans
  • Hydrocortisone / therapeutic use
  • Infertility / etiology
  • Insulin Resistance
  • Male
  • Middle Aged
  • Mineralocorticoids / therapeutic use
  • Patient Care Planning
  • Pregnancy
  • Pregnancy Rate
  • Quality of Life
  • Steroid 21-Hydroxylase / genetics*

Substances

  • Glucocorticoids
  • Mineralocorticoids
  • Steroid 21-Hydroxylase
  • Hydrocortisone

Supplementary concepts

  • Congenital adrenal hyperplasia due to 21 hydroxylase deficiency