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Inactivating FSH receptor mutations and gonadal dysfunction
J S Tapanainen1, T Vaskivuo, K Aittomäki
1Department of Obstetrics and Gynecology, Oulu University Hospital, Finland. juha.tapanainen@oulu.fi
Molecular and Cellular Endocrinology
|January 28, 1999
Summary
Genetic mutations in the follicle-stimulating hormone receptor (FSHR) impact fertility. Inactivating FSHR mutations cause infertility in women but only suppress sperm production in men, revealing FSH
Area of Science:
- Reproductive Biology
- Human Genetics
- Endocrinology
Background:
- Genetic mutations and polymorphisms in reproductive genes are increasingly identified.
- Specific mutations in the luteinizing hormone (LH) receptor gene have been noted.
- The follicle-stimulating hormone receptor (FSHR) gene is crucial for reproductive functions.
Purpose of the Study:
- To investigate the impact of FSHR gene mutations on female and male fertility.
- To understand the role of FSH in reproductive functions based on observed mutations.
Main Methods:
- Identification and characterization of FSHR gene mutations.
- Analysis of the effects of specific mutations (Ala189Val and Asn191Ile) on reproductive outcomes.
Main Results:
- An inactivating Ala189Val mutation in FSHR causes primary amenorrhea and infertility in homozygous women.
- The same Ala189Val mutation suppresses spermatogenesis in males but does not cause absolute infertility.
- A distinct inactivating Asn191Ile mutation in FSHR was found in a healthy fertile woman.
Conclusions:
- Normal ovarian function is critically dependent on follicle-stimulating hormone (FSH) action.
- Male fertility is less strictly dependent on normal FSH action than previously thought.
- FSHR mutations provide insights into the differential roles of FSH in female and male reproduction.