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Mutations in the follicle-stimulating hormone-beta (FSH beta) and FSH receptor genes in mice and humans
1Department of Obstetrics & Gynecology, Section of Reproductive Endocrinology, Infertility, and Genetics, Developmental Biology Program, Institute of Molecular Medicine and Genetics, Medical College of Georgia, Augusta, Georgia, USA.
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 (FSH beta) 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 FSH beta 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 FSH beta and FSHR genes suggest that FSH is necessary for normal pubertal development and fertility in males and females.
Insights
Follicle-stimulating hormone (FSH) is crucial for reproductive health in both sexes. Genetic defects in FSH or its receptor impair fertility and sex steroid production, highlighting FSH
Area of Science:
- Reproductive Endocrinology
- Genetics
- Molecular Biology
Background:
- Follicle-stimulating hormone (FSH) is a glycoprotein hormone essential for gamete production and sex steroid synthesis.
- FSH is synthesized in the anterior pituitary gland and acts via the FSH receptor (FSHR).
Purpose of the Study:
- To investigate the critical role of FSH and FSHR in reproductive development and fertility.
- To compare the phenotypic consequences of FSH beta and FSHR gene mutations in humans and mice.
Main Methods:
- Analysis of knockout mouse models lacking functional FSH beta or FSHR.
- Examination of human genetic mutations in FSH beta and FSHR genes.
- Assessment of reproductive phenotypes, including gonadal development and fertility.
Main Results:
- FSH beta and FSHR knockout mice exhibit impaired ovarian follicular development, infertility in females, and testicular abnormalities with oligospermia in males.
- Human mutations in FSH beta generally lead to more severe phenotypes than FSHR mutations.
- Both types of mutations result in infertility and impaired sex steroid production.
Conclusions:
- FSH is indispensable for normal pubertal development and fertility in both males and females.
- Disruptions in the FSH signaling pathway have significant reproductive consequences.
- Understanding FSH and FSHR function is vital for diagnosing and treating reproductive disorders.