Hormone resistance at the clinical level

Sci Signal. 2010 Oct 12;3(143):pt1. doi: 10.1126/scisignal.3143pt1.

Abstract

This presentation introduces clinical aspects of hormone resistance through a number of case studies that illustrate how molecular defects at various steps in hormone production, signaling, or responsiveness can produce disease in humans. The presentation also shows how careful phenotyping of such patients has triggered decades of translational research.

Publication types

  • Address
  • Video-Audio Media

MeSH terms

  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / deficiency
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / genetics
  • Adolescent
  • Alopecia / genetics
  • Aquaporin 2 / deficiency
  • Aquaporin 2 / genetics
  • Calcium / therapeutic use
  • Child
  • Child, Preschool
  • Disorder of Sex Development, 46,XY / enzymology
  • Disorder of Sex Development, 46,XY / genetics
  • Endocrine System Diseases / genetics
  • Endocrine System Diseases / physiopathology*
  • Female
  • Fibrous Dysplasia, Polyostotic / genetics
  • Hormones / physiology*
  • Humans
  • Male
  • Mutation
  • Phenotype
  • Pseudohypoparathyroidism
  • Receptor, Parathyroid Hormone, Type 1 / deficiency
  • Receptor, Parathyroid Hormone, Type 1 / genetics
  • Receptors, Calcitriol / deficiency
  • Receptors, Calcitriol / genetics
  • Rickets / classification
  • Rickets / genetics
  • Vitamin D / metabolism
  • Vitamin D / therapeutic use

Substances

  • Aquaporin 2
  • Hormones
  • Receptor, Parathyroid Hormone, Type 1
  • Receptors, Calcitriol
  • Vitamin D
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
  • Calcium