| H00937 | |
| H番号 | H00937 |
| 名称 | 思春期早発症 |
| 概要 | 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. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | nt06323(H00937) KISS1-GnRH-LH/FSH-E2 signaling |
| 病因遺伝子 | (CEPREPU) KISS1R [HSA:84634] [KO:K08374] (FMPP) LHCGR [HSA:3973] [KO:K04248] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A92 5A60.3 ICD-10: E22.8 E30.1 MeSH: D011629 C562787 C536961 OMIM: 176400 176410 |
| 文献 | PMID:21664234 著者 Teles MG, Silveira LF, Tusset C, Latronico AC タイトル New genetic factors implicated in human GnRH-dependent precocious puberty: the role of kisspeptin system. 雑誌 Mol Cell Endocrinol 346:84-90 (2011) DOI:10.1016/j.mce.2011.05.019 PMID:20374734 著者 Segaloff DL タイトル Diseases associated with mutations of the human lutropin receptor. 雑誌 Prog Mol Biol Transl Sci 89:97-114 (2009) DOI:10.1016/S1877-1173(09)89004-2 PMID:18478155 著者 Bertelloni S, Mul D タイトル Treatment of central precocious puberty by GnRH analogs: long-term outcome in men. 雑誌 Asian J Androl 10:525-34 (2008) DOI:10.1111/j.1745-7262.2008.00409.x |