Book chapter
Chapter 4 Diseases Associated with Mutations of the Human Lutropin Receptor
Progress in Molecular Biology and Translational Science, pp.97-114
2009
DOI: 10.1016/S1877-1173(09)89004-2
Abstract
The human lutropin receptor (LHCGR) plays an integral role in male and female reproductive physiology. In response to either placental hCG or pituitary LH, gonadal LHCGR mediates its effects primarily through Gs activation. Heterozygous mutations leading to constitutive activation of the LHCGR cause gonadotropin-independent precocious puberty in males, but have no detectable effects on prepubertal or postpubertal females. Homozygous or compound heterozygous inactivating mutations of the
LHCGR cause gonadal resistance to hCG and LH, where the clinical phenotypes associated with these mutations are closely correlated with the severity of the mutation. Inactivating mutations in 46,XY individuals cause Leydig cell hypoplasia and impairments in the differentiation of male external genitalia, the development of secondary sexual characteristics and sperm production. 46,XX siblings with inactivating LHCGR mutations exhibit infertility and varying degrees of menstrual irregularities.
Details
- Title: Subtitle
- Chapter 4 Diseases Associated with Mutations of the Human Lutropin Receptor
- Creators
- Deborah 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.97-114
- DOI
- 10.1016/S1877-1173(09)89004-2
- eISSN
- 1878-0814
- ISSN
- 1877-1173
- Language
- English
- Date published
- 2009
- Academic Unit
- Molecular Physiology and Biophysics; Obstetrics and Gynecology
- Record Identifier
- 9984083852702771
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