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InactivatingKISS1Mutation and Hypogonadotropic Hypogonadism
- Source :
- New England Journal of Medicine. 366:629-635
- Publication Year :
- 2012
- Publisher :
- Massachusetts Medical Society, 2012.
-
Abstract
- Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B stimulate GnRH release. Inactivating mutations in the genes encoding the human kisspeptin receptor (KISS1R, formerly called GPR54), neurokinin B (TAC3), and the neurokinin B receptor (TACR3) result in pubertal failure. However, human kisspeptin loss-of-function mutations have not been described, and contradictory findings have been reported in Kiss1-knockout mice. We describe an inactivating mutation in KISS1 in a large consanguineous family that results in failure of pubertal progression, indicating that functional kisspeptin is important for puberty and reproduction in humans. (Funded by the Scientific and Technological Research Council of Turkey [TÜBİTAK] and others.). Copyright © 2012 Massachusetts Medical Society.
- Subjects :
- Adult
Male
endocrine system
medicine.medical_specialty
Adolescent
Genotyping Techniques
Genes, Recessive
Gonadotropin-releasing hormone
medicine.disease_cause
Gonadotropin-Releasing Hormone
Consanguinity
chemistry.chemical_compound
Kisspeptin
Hypogonadotropic hypogonadism
Internal medicine
Humans
Medicine
Child
Receptor
Kisspeptins
Mutation
business.industry
Hypogonadism
Puberty
Sequence Analysis, DNA
General Medicine
medicine.disease
Pedigree
Endocrinology
chemistry
Female
Congenital Hypogonadotropic Hypogonadism
Neurokinin B
business
hormones, hormone substitutes, and hormone antagonists
Hormone
Subjects
Details
- ISSN :
- 15334406 and 00284793
- Volume :
- 366
- Database :
- OpenAIRE
- Journal :
- New England Journal of Medicine
- Accession number :
- edsair.doi.dedup.....ffdd0737c94bbe184ca6d8ff617471e2