Book chapter
Chapter 5 Follicle Stimulating Hormone Receptor Mutations and Reproductive Disorders
Progress in Molecular Biology and Translational Science, pp.115-131
2009
DOI: 10.1016/S1877-1173(09)89005-4
Abstract
The follicle stimulating hormone receptor (FSHR) plays a critical role in reproductive function. In the males, FSH supports spermatogenesis, whereas in females, FSH is absolutely required for ovarian follicle growth. In females, inactivating mutations in the
FSHR result in ovarian dysgenesis with amenorrhea and infertility. The few males reported with severe inactivating mutations exhibited varying spermatogenic defects, but not azoospermia. While these findings may potentially suggest that FSH action is not absolutely required for spermatogenesis, it cannot be ruled out that these individuals have some residual FSHR activity. Gain-of-function mutations in the
FSHR cause spontaneous ovarian hyperstimulation syndrome in females due to the inappropriate stimulation of the mutant FSHR by human choriogonadotropin.
Details
- Title: Subtitle
- Chapter 5 Follicle Stimulating Hormone Receptor Mutations and Reproductive Disorders
- Creators
- Ya-Xiong Tao - Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, 212 Greene Hall, Auburn University, Auburn, Alabama 36849Deborah L Segaloff - Department of Molecular Physiology and Biophysics, The Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, Iowa 52242
- Resource Type
- Book chapter
- Publication Details
- Progress in Molecular Biology and Translational Science, pp.115-131
- DOI
- 10.1016/S1877-1173(09)89005-4
- eISSN
- 1878-0814
- ISSN
- 1877-1173
- Language
- English
- Date published
- 2009
- Academic Unit
- Molecular Physiology and Biophysics; Obstetrics and Gynecology
- Record Identifier
- 9984083234502771
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