| H00937 | |
| H number | H00937 |
| Name | Precocious puberty |
| 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 | Endocrine and metabolic disease |
| Network | nt06323(H00937) KISS1-GnRH-LH/FSH-E2 signaling |
| Gene | (CEPREPU) KISS1R [HSA:84634] [KO:K08374] (FMPP) LHCGR [HSA:3973] [KO:K04248] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Nafarelin acetate [DR:D00990] |
| Comment | - |
| Other DBs | ICD-11: 5A92 5A60.3 ICD-10: E22.8 E30.1 MeSH: D011629 C562787 C536961 OMIM: 176400 176410 |
| Reference | PMID:21664234 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) DOI:10.1016/j.mce.2011.05.019 PMID:20374734 AUTHORS Segaloff DL TITLE Diseases associated with mutations of the human lutropin receptor. JOURNAL Prog Mol Biol Transl Sci 89:97-114 (2009) DOI:10.1016/S1877-1173(09)89004-2 PMID:18478155 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) DOI:10.1111/j.1745-7262.2008.00409.x |