| H00794 | |
| H number | H00794 |
| Name | Aromatase excess syndrome |
| Description | 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. |
| Category | Endocrine and metabolic disease |
| Network | nt06019(H00794) Steroid hormone biosynthesis |
| Gene | CYP19A1 (gain of function) [HSA:1588] [KO:K07434] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5A92 ICD-10: E30.1 MeSH: C537436 OMIM: 139300 |
| Reference | PMID:21470988 AUTHORS 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 TITLE Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants. JOURNAL J Clin Endocrinol Metab 96:E1035-43 (2011) DOI:10.1210/jc.2011-0145 PMID:17584767 AUTHORS 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 TITLE Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene. JOURNAL Hum Mol Genet 16:2529-41 (2007) DOI:10.1093/hmg/ddm145 PMID:12736278 AUTHORS Shozu M, Sebastian S, Takayama K, Hsu WT, Schultz RA, Neely K, Bryant M, Bulun SE TITLE Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene. JOURNAL N Engl J Med 348:1855-65 (2003) DOI:10.1056/NEJMoa021559 |