title: Mutations in human gonadotropin genes and their physiologic significance in puberty and reproduction.
abstract: OBJECTIVE
  Human gene mutations provide an opportunity to study the pathophysiology of the disease process as well as normal physiology. The purpose of the present report was to review known human gene mutations that affect gonadotropin secretion.
  
  
  METHODS
  A retrospective analysis of studies of human gene mutations that affect hypothalamic, pituitary, and gonadal function was conducted.
  
  
  RESULTS
  Mutations have been identified for at least three genes that cause inherited hypogonadotropic hypogonadism. In addition, gene mutations for the beta-subunits of FSH and LH have been characterized. Both activating and inactivating mutations have been identified for the gonadotropin receptor genes.
  
  
  CONCLUSIONS
  The identification of human gene mutations has furthered our understanding of the normal processes of pubertal development and fertility.
authors.affiliation: Department of Obstetrics and Gynecology, The University of Chicago, Illinois 60637, USA. llayman@babies.bsd.uchicago.edu
authors.forename: L C
authors.initials: LC
authors.lastname: Layman
mesh_terms: D000595:Amino Acid Sequence; D007987:Gonadotropin-Releasing Hormone / Q000235:genetics; D006062:Gonadotropins / Q000235:genetics*; D006801:Humans; D017436:Kallmann Syndrome / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011627:Puberty / Q000235:genetics*; D012098:Reproduction / Q000502:physiology*