KEGG   DISEASE: Central precocious puberty
Entry
H02018                      Disease                                

Name
Central precocious puberty
  Supergrp
Precocious puberty [DS:H00937]
Description
Central precocious puberty is caused by early maturation of the hypothalamic-pituitary-gonadal axis. Recently, kisspeptin receptor (KISS1R) and its ligand, kisspeptin, were described as an excitatory neuroregulator system for the secretion of gonadotropin-releasing hormone (GnRH). Mutations of the KISS1R gene were identified in patients with impaired pubertal development. It has also been reported that central precocious puberty caused by mutations in the imprinted gene MKRN3.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Hypothalamus and pituitary gland diseases
   H02018  Central precocious puberty
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the pituitary hormone system
    5A60  Hyperfunction of pituitary gland
     H02018  Central precocious puberty
Related
pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04929  GnRH secretion
Network
  Element
N00872  Mutation-activated KISS1R to KISS1-KISS1R-PLCB-PKC signaling pathway
Gene
KISS1R [HSA:84634] [KO:K08374]
MKRN3 [HSA:7681] [KO:K15687]
Drug
Leuprolide acetate [DR:D00989]
Triptorelin pamoate [DR:D06248]
Histrelin acetate [DR:D02116]
Other DBs
ICD-11: 5A60.3
ICD-10: E30.1
MeSH: C562787
OMIM: 176400 615346
Reference
  Authors
Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca BB, Kaiser UB, Latronico AC
  Title
A GPR54-activating mutation in a patient with central precocious puberty.
  Journal
N Engl J Med 358:709-15 (2008)
DOI:10.1056/NEJMoa073443
Reference
  Authors
Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, Kaiser UB
  Title
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
  Journal
N Engl J Med 368:2467-75 (2013)
DOI:10.1056/NEJMoa1302160
LinkDB

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