Congenital adrenal hyperplasia

Clin Biochem. 2011 May;44(7):505-506. doi: 10.1016/j.clinbiochem.2011.02.026.
No abstract available

MeSH terms

  • 17-alpha-Hydroxyprogesterone / analysis
  • Adrenal Glands / metabolism*
  • Adrenal Glands / physiopathology
  • Adrenal Hyperplasia, Congenital / diagnosis*
  • Adrenal Hyperplasia, Congenital / genetics
  • Adrenal Hyperplasia, Congenital / metabolism
  • Biomarkers / analysis
  • Blotting, Southern
  • Cholesterol / metabolism
  • Exons
  • Genes, Recessive
  • Humans
  • Hydrocortisone / analysis*
  • Hydrocortisone / biosynthesis
  • Infant, Newborn
  • Introns
  • Isoenzymes / genetics
  • Isoenzymes / metabolism
  • Multiplex Polymerase Chain Reaction / methods*
  • Mutation
  • Neonatal Screening
  • Severity of Illness Index
  • Steroid 21-Hydroxylase / genetics
  • Steroid 21-Hydroxylase / metabolism*

Substances

  • Biomarkers
  • Isoenzymes
  • 17-alpha-Hydroxyprogesterone
  • Cholesterol
  • CYP21A2 protein, human
  • Steroid 21-Hydroxylase
  • Hydrocortisone