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

Research output: Contribution to journalReview article

25 Citations (Scopus)

Abstract

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
Volume18
Issue number1
StatePublished - Dec 1 2000

Fingerprint

FSH Receptors
Follicle Stimulating Hormone
Mutation
Genes
Fertility
Steroids
Human Follicle Stimulating Hormone
Female Infertility
Oligospermia
Anterior Pituitary Gland
Knockout Mice
Germ Cells
Infertility
Testis
Glycoproteins
Phenotype

Keywords

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

ASJC Scopus subject areas

  • Endocrinology
  • Physiology
  • Obstetrics and Gynecology
  • Reproductive Medicine
  • Endocrinology, Diabetes and Metabolism

Cite this

Mutations in the follicle-stimulating hormone-beta (FSHβ) and FSH receptor genes in mice and humans. / Layman, Lawrence C.

In: Seminars in Reproductive Medicine, Vol. 18, No. 1, 01.12.2000, p. 5-10.

Research output: Contribution to journalReview article

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