Article
Inactivating mutations of the human luteinizing hormone receptor in both sexes.
Seminars in reproductive medicine - 1 Oct 2012
Latronico Ana Claudia, Arnhold Ivo J P
Abstract excerpt
The human luteinizing hormone/chorionic gonadotropin receptor (LHCGR) plays a fundamental role in male and female reproductive physiology. Over the past 15 years, several homozygous or compound heterozygous loss-of-function mutations in the LHCGR gene have been described in males and females. In genetic males, mutations in LHCGR were associated with distinct degrees of impairment in pre- and postnatal...
Topics
- Animals
- Diagnosis, Differential
- Disorders of Sex Development
- Female
- Humans
- Hypogonadism
- Infertility, Female
- Infertility, Male
- Male
- Mutation
- Receptors, LH