Mutations of follicle stimulating hormone-β and its receptor in human and mouse: Genotype/phenotype

Lawrence C. Layman, Paul G. McDonough

Research output: Contribution to journalArticlepeer-review

64 Scopus citations


The pituitary gonadotropin follicle stimulating hormone (FSH) interacts with its membrane-bound receptor, to produce biologic effects. Traditional functions of FSH include, follicular development and estradiol production in females and the regulation of Sertoli cell action and spermatogenesis in males. FSHβ knock-out mice and transgenic mice, serve as models for FSH deficiency and excess, respectively. In addition, mutations of both FSHβ and FSHR genes have been characterized in humans, although phenotypic effects of the ligand appear to be more profound than those of its receptor. FSH is essential for normal puberty and fertility in females, particularly ovarian follicular development beyond the antral stage. In males, FSH is necessary for normal spermatogenesis and when FSH function is completely absent, infertility occurs. With partial FSH deficiency in males, spermatogenesis is affected, but fertility may still be possible. FSH may also be necessary for normal androgen synthesis in males and females. Copyright (C) 2000 Elsevier Science Ireland Ltd.

Original languageEnglish (US)
Pages (from-to)9-17
Number of pages9
JournalMolecular and Cellular Endocrinology
Issue number1-2
StatePublished - Mar 30 2000


  • FSH receptor
  • FSHβ gene
  • FSHβ knock-out mouse
  • FSHβ transgenic mouse
  • Follicle stimulating hormone (FSH)
  • Isolated FSH deficiency

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Endocrinology


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