Details of Disease

General Information of Disease (ID: DIS1N9UV)

• Disease Name: Aromatase excess syndrome
• Synonyms: aromatase activity, increased; aromatase excess syndrome; increased aromatase activity; familial hyperestrogenism; AEXS; gynecomastia, familial, due to increased aromatase activity; hereditary prepubertal gynecomastia; gynecomastia, hereditary
• Definition: Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.
• Disease Hierarchy:
  DISO5FAY: Inborn error of metabolism
  DIS7W23Z: Reproductive system disorder
  DIS1N9UV: Aromatase excess syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007690
  MESH ID: C000591739
  UMLS CUI: C1970109
  OMIM ID: 139300
  MedGen ID: 409989
  Orphanet ID: 178345
  SNOMED CT ID: 709075008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CYP19A1	TTSZLWK	Limited	Biomarker	[1]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP19A1	DEQX145	Moderate	Autosomal dominant	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYP19A1	OTZ6XF74	Moderate	Autosomal dominant	[2]
CFC1	OT5DHGI8	Strong	Biomarker	[3]
PELP1	OTVXQNOT	Strong	Biomarker	[4]

References

• [1] Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2.J Pediatr Endocrinol Metab. 2019 Jan 28;32(1):85-88. doi: 10.1515/jpem-2018-0266.
• [2] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [3] Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression.J Clin Endocrinol Metab. 2013 Dec;98(12):E2013-21. doi: 10.1210/jc.2013-2520. Epub 2013 Sep 24.
• [4] Modulation of in situ estrogen synthesis by proline-, glutamic acid-, and leucine-rich protein-1: potential estrogen receptor autocrine signaling loop in breast cancer cells.Mol Endocrinol. 2008 Mar;22(3):649-64. doi: 10.1210/me.2007-0350. Epub 2007 Dec 13.