Mutations in the follicle-stimulating hormone-beta (FSHβ) and FSH receptor genes in mice and humans

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28 Scopus citations


Follicle-stimulating hormone (FSH), a dimeric glycoprotein synthesized in the anterior pituitary gland, is important for the production of sex steroids and gametes. FSH-beta (FSHβ) and FSH receptor (FSHR) knockout mice display impaired ovarian follicular development and infertility in females and small testes, oligospermia, and fertility in males. Humans with FSHβ gene mutations tend to have a more severe phenotype than those with FSHR gene mutations, although infertility and varying degrees of impaired sex steroid production occur in both types of mutations. Data from human and mouse mutations in the FSHβ and FSHR genes suggest that FSH is necessary for normal pubertal development and fertility in males and females.

Original languageEnglish (US)
Pages (from-to)5-10
Number of pages6
JournalSeminars in Reproductive Medicine
Issue number1
StatePublished - Jan 1 2000



  • FSH receptor
  • FSHR gene
  • FSHβ gene
  • Follicle-stimulating hormone
  • Isolated FSH deficiency

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Reproductive Medicine
  • Endocrinology
  • Obstetrics and Gynecology
  • Physiology (medical)

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