KEGG   DISEASE: Aromatase excess syndrome
Entry
H00794                      Disease                                

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 disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Gonadal diseases
   H00794  Aromatase excess syndrome
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Certain disorders of puberty
    5A92  Peripheral precocious puberty
     H00794  Aromatase excess syndrome
Pathway
hsa00140  Steroid hormone biosynthesis
Gene
CYP19A1 (gain of function) [HSA:1588] [KO:K07434]
Other DBs
ICD-11: 5A92
ICD-10: E30.1
MeSH: C537436
OMIM: 139300
Reference
  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
Reference
  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
Reference
  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
LinkDB

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