Untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Eur J Pediatr. 2009 Jul;168(7):847-9. doi: 10.1007/s00431-008-0847-2. Epub 2008 Oct 16.


Congenital adrenal hyperplasia (CAH) is an inherited metabolic disease caused by the deficiency of one of the enzymes necessary for cortisol synthesis. With carefully supervised medical treatment, CAH patients have the capacity for normal puberty and fertility. We report on a 12.4-year-old female who, because of the early interruption of treatment, developed progressive virilization with reduced final height and altered psycho-social orientation to male. One of the reasons for interrupting replacement therapy in our case was the difficult social and economic status of the family, who lived for many years without basic medical care.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Hyperplasia, Congenital / drug therapy*
  • Adrenal Hyperplasia, Congenital / genetics
  • Adrenal Hyperplasia, Congenital / physiopathology
  • Child
  • Drug Administration Schedule
  • Female
  • Glucocorticoids / administration & dosage*
  • Heterozygote
  • Humans
  • Mineralocorticoids / administration & dosage*
  • Mutation
  • Phenotype
  • Sexual Maturation / drug effects
  • Steroid 21-Hydroxylase / genetics*
  • Steroid 21-Hydroxylase / metabolism
  • Virilism / etiology*
  • Virilism / physiopathology
  • Virilism / psychology
  • Withholding Treatment*


  • Glucocorticoids
  • Mineralocorticoids
  • Steroid 21-Hydroxylase