Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Adv Hum Genet. 1991:20:1-68. doi: 10.1007/978-1-4684-5958-6_1.
No abstract available

Publication types

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

MeSH terms

  • 17-alpha-Hydroxyprogesterone
  • Adrenal Glands / metabolism
  • Adrenal Hyperplasia, Congenital* / diagnosis
  • Adrenal Hyperplasia, Congenital* / drug therapy
  • Adrenal Hyperplasia, Congenital* / genetics*
  • Adrenal Hyperplasia, Congenital* / metabolism
  • Amniocentesis
  • Amniotic Fluid / chemistry
  • Blotting, Southern
  • Cholesterol / biosynthesis
  • Chromosome Mapping
  • Chromosomes, Human, Pair 6
  • Complement C4 / genetics
  • Cytochrome P-450 Enzyme System / physiology
  • Dexamethasone / therapeutic use
  • Gene Conversion
  • HLA Antigens / genetics
  • Humans
  • Hydroxyprogesterones / blood
  • Mutation
  • Phenotype
  • Steroid 21-Hydroxylase / genetics

Substances

  • Complement C4
  • HLA Antigens
  • Hydroxyprogesterones
  • 17-alpha-Hydroxyprogesterone
  • Dexamethasone
  • Cytochrome P-450 Enzyme System
  • Cholesterol
  • Steroid 21-Hydroxylase