KEGG   DISEASE: H00937Help
Entry
H00937                      Disease                                

Name
Precocious puberty, including:
Central precocious puberty (CEPREPU);
Familial male precocious puberty (FMPP)
Description
Precocious puberty has been classically defined as the onset of secondary sexual characteristics in girls younger than 8 years old and in boys younger than 9 and a half years old. Central precocious puberty (CEPREPU) refers to a gonadotropin-dependent type which results from premature activation of the hypothalamic-pituitary-gonadal axis (HPG). CEPREPU is much more frequent in girls than in boys (up to 20:1 ratio). Recently, kisspeptin receptor (KISS1R) and its ligand, kisspeptin, were revealed as major gatekeepers of puberty onset. Mutations of the KISS1R gene were described in patients with impaired pubertal development. On the other hand, it has been reported that heterozygous mutations of the LHCGR gene cause gonadotropin-independent precocious puberty in males, but have no detectable effects on prepubertal or postpubertal females.
Category
Metabolic disease; Endocrine disease
BRITE hierarchy
Pathway
Calcium signaling pathway
Neuroactive ligand-receptor interaction
GnRH signaling pathway
Gene
(CEPREPU) KISS1R [HSA:84634] [KO:K08374]
(FMPP) LHCGR [HSA:3973] [KO:K04248]
Drug
Leuprorelin acetate [DR:D00989]
Buserelin acetate [DR:D01831]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Teles MG, Silveira LF, Tusset C, Latronico AC
  Title
New genetic factors implicated in human GnRH-dependent precocious puberty: the role of kisspeptin system.
  Journal
Mol Cell Endocrinol 346:84-90 (2011)
Reference
  Authors
Segaloff DL
  Title
Diseases associated with mutations of the human lutropin receptor.
  Journal
Prog Mol Biol Transl Sci 89:97-114 (2009)
Reference
  Authors
Bertelloni S, Mul D
  Title
Treatment of central precocious puberty by GnRH analogs: long-term outcome in men.
  Journal
Asian J Androl 10:525-34 (2008)

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