Mutations in human gonadotropin and gonadotropin-receptor genes

Endocrine. 2005 Apr;26(3):207-17. doi: 10.1385/ENDO:26:3:207.


This short review provides an update on the new information that has become available in the recent years about mutations and polymorphisms in the genes for gonadotropins and their receptors. Combining the types and locations of the mutations, their phenotypic effects, and the recently emerged information about the crystal structure of these molecules is providing us with increasingly detailed picture about the structure-function relationships of gonadotropin action.

Publication types

  • Review

MeSH terms

  • Amino Acid Sequence
  • Follicle Stimulating Hormone / genetics*
  • Humans
  • Luteinizing Hormone / genetics*
  • Mutation / genetics*
  • Polymorphism, Genetic / genetics*
  • Receptors, FSH / genetics*
  • Receptors, LH / genetics*


  • Receptors, FSH
  • Receptors, LH
  • Luteinizing Hormone
  • Follicle Stimulating Hormone