An update on the genetic causes of central precocious pubertyAn update on the genetic causes of central precocious puberty
- Other Titles
- An update on the genetic causes of central precocious puberty
- Authors
- Young Lim Shin
- Issue Date
- 2016
- Publisher
- 대한소아내분비학회
- Keywords
- Central precocious puberty; Kisspeptins; MKRN3 gene; Mutation
- Citation
- Annals of Pediatirc Endocrinology & Metabolism, v.21, no.2, pp 66 - 69
- Pages
- 4
- Journal Title
- Annals of Pediatirc Endocrinology & Metabolism
- Volume
- 21
- Number
- 2
- Start Page
- 66
- End Page
- 69
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/9517
- ISSN
- 2287-1012
2287-1292
- Abstract
- Central precocious puberty (CPP) is caused by the premature reactivation of the hypothalamic-pituitary-gonadal axis. Genetic, nutritional, and environmental factors play a crucial role in determining pubertal timing. Recently mutations in kisspeptin (KISS1), kisspeptin receptor (KISS1R), and makorin RING finger protein 3 (MKRN3) genes have been identified as genetic causes of CPP. In particular, the MKRN3 gene is known to affect pubertal initiation. The MKRN3 gene is located on chromosome 15q11-q13 in the Prader-Willi syndrome (PWS) critical region.
MKRN3 deficiency, due to a loss of function mutation, leads to the withdrawal of hypothalamic inhibition and prompts pulsatile gonadotropin-releasing hormone secretion, resulting in precocious puberty. The exact functions of these genes associated with CPP are still not well understood. Larger studies are required to discover the mechanisms involved in pubertal development.
- Files in This Item
- There are no files associated with this item.
- Appears in
Collections - College of Medicine > Department of Pediatrics > 1. Journal Articles
![qrcode](https://api.qrserver.com/v1/create-qr-code/?size=55x55&data=https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/9517)
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.