Glucocorticoid resistance in premature pubarche and adolescent hyperandrogenism

Mol Genet Metab. 1999 Feb;66(2):137-41. doi: 10.1006/mgme.1998.2796.

Abstract

To determine whether glucocorticoid resistance due to mutations in the glucocorticoid receptor (GRL) gene is associated with premature pubarche, hirsutism, or oligo/amenorrhea, we performed single-strand conformational polymorphism analysis of genomic DNA obtained from 25 children and 16 adolescent girls referred for the evaluation of premature pubarche, hirsutism, or oligo/amenorrhea. A missense mutation, N363S, and a presumed polymorphism in the 3'-UTR of exon 9alpha were identified. We conclude that glucocorticoid resistance due to GRL mutations is an infrequent cause of mild hyperandrogenism.

Publication types

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

MeSH terms

  • 3' Untranslated Regions / genetics
  • Adolescent
  • Adrenocorticotropic Hormone
  • Amenorrhea / genetics*
  • Amino Acid Substitution
  • Child
  • DNA / blood
  • Drug Resistance / genetics
  • Exons
  • Female
  • Genetic Variation
  • Genotype
  • Glucocorticoids / physiology
  • Hirsutism / genetics*
  • Humans
  • Hydrocortisone / blood
  • Hyperandrogenism / genetics*
  • Male
  • Mutation, Missense*
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational*
  • Puberty, Precocious / genetics*
  • Receptors, Glucocorticoid / chemistry
  • Receptors, Glucocorticoid / genetics*

Substances

  • 3' Untranslated Regions
  • Glucocorticoids
  • Receptors, Glucocorticoid
  • Adrenocorticotropic Hormone
  • DNA
  • Hydrocortisone