| H00794 | |
| H番号 | H00794 |
| 名称 | アロマターゼ過剰症 |
| 概要 | Aromatase excess syndrome (AEXS) is a rare disorder characterized by gynecomastia. Excessive expression of aromatase, an enzyme that plays a crucial role in the estrogen biosynthesis, causes pre- or peripubertal onset gynecomastia, advanced bone age such as early fusion of epiphyses, and short stature in affected males. Female patients experience premature breast development. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | nt06019(H00794) Steroid hormone biosynthesis |
| 病因遺伝子 | CYP19A1 (gain of function) [HSA:1588] [KO:K07434] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A92 ICD-10: E30.1 MeSH: C537436 OMIM: 139300 |
| 文献 | PMID:21470988 著者 Fukami M, Shozu M, Soneda S, Kato F, Inagaki A, Takagi H, Hanaki K, Kanzaki S, Ohyama K, Sano T, Nishigaki T, Yokoya S, Binder G, Horikawa R, Ogata T タイトル Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants. 雑誌 J Clin Endocrinol Metab 96:E1035-43 (2011) DOI:10.1210/jc.2011-0145 PMID:17584767 著者 Demura M, Martin RM, Shozu M, Sebastian S, Takayama K, Hsu WT, Schultz RA, Neely K, Bryant M, Mendonca BB, Hanaki K, Kanzaki S, Rhoads DB, Misra M, Bulun SE タイトル Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene. 雑誌 Hum Mol Genet 16:2529-41 (2007) DOI:10.1093/hmg/ddm145 PMID:12736278 著者 Shozu M, Sebastian S, Takayama K, Hsu WT, Schultz RA, Neely K, Bryant M, Bulun SE タイトル Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene. 雑誌 N Engl J Med 348:1855-65 (2003) DOI:10.1056/NEJMoa021559 |