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Aromatase excess syndrome(AEXS)

MedGen UID:
409989
•Concept ID:
C1970109
•
Disease or Syndrome
Synonyms: AEXS; AROMATASE ACTIVITY, INCREASED; Familial gynecomastia, due to increased aromatase activity; GYNECOMASTIA, HEREDITARY
SNOMED CT: Aromatase excess syndrome (709075008); Increased aromatase activity (709075008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): CYP19A1 (15q21.2)
 
Monarch Initiative: MONDO:0007690
OMIM®: 139300
Orphanet: ORPHA178345

Definition

Aromatase excess syndrome (AEXS) is an autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females (Tiulpakov et al., 2005). [from OMIM]

Additional description

From MedlinePlus Genetics
Aromatase excess syndrome is a condition characterized by elevated levels of the female sex hormone estrogen in both males and females. Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of affected males grow and develop more quickly and stop growing sooner than usual (advanced bone age). As a result males have an early growth spurt, typically during late childhood, with short stature as an adult. Affected females rarely show signs and symptoms of the condition, but they may have increased breast growth (macromastia), irregular menstrual periods, and short stature. The ability to have children (fertility) is usually normal in both males and females with aromatase excess syndrome.  https://medlineplus.gov/genetics/condition/aromatase-excess-syndrome

Clinical features

From HPO
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
See: Feature record | Search on this feature
Accelerated skeletal maturation
MedGen UID:
154262
•Concept ID:
C0545053
•
Finding
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
See: Feature record | Search on this feature
Gynecomastia
MedGen UID:
6694
•Concept ID:
C0018418
•
Disease or Syndrome
Abnormal development of large mammary glands in males resulting in breast enlargement.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAromatase excess syndrome
Follow this link to review classifications for Aromatase excess syndrome in Orphanet.

Professional guidelines

PubMed

Gynaecomastia--pathophysiology, diagnosis and treatment.
Narula HS, Carlson HE
Nat Rev Endocrinol 2014 Nov;10(11):684-98. Epub 2014 Aug 12 doi: 10.1038/nrendo.2014.139. PMID: 25112235

Recent clinical studies

Etiology

Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome.
Binder G, Nakamura A, Schweizer R, Ogata T, Fukami M, Nagasaki K
J Clin Endocrinol Metab 2021 Apr 23;106(5):1491-1500. doi: 10.1210/clinem/dgab054. PMID: 33513243

Diagnosis

Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2.
Tan X, Wu X, Chen J, Wu Y, Li S, Chen X, Zhang X
J Pediatr Endocrinol Metab 2019 Jan 28;32(1):85-88. doi: 10.1515/jpem-2018-0266. PMID: 30530883
Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia.
Fukami M, Miyado M, Nagasaki K, Shozu M, Ogata T
Pediatr Endocrinol Rev 2014 Mar;11(3):298-305. PMID: 24716396
Disseminated blue naevus and malignant blue naevus associated with excessive aromatase syndrome.
Lobo AZ, Martin RM, Belda W Jr, Michi MM, Arnone M, Festa-Neo C, Sotto MN, Vilela MA, Sanches JA Jr
Clin Exp Dermatol 2008 Aug;33(5):591-4. Epub 2008 May 7 doi: 10.1111/j.1365-2230.2008.02720.x. PMID: 18462445

Therapy

Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome.
Binder G, Nakamura A, Schweizer R, Ogata T, Fukami M, Nagasaki K
J Clin Endocrinol Metab 2021 Apr 23;106(5):1491-1500. doi: 10.1210/clinem/dgab054. PMID: 33513243
Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2.
Tan X, Wu X, Chen J, Wu Y, Li S, Chen X, Zhang X
J Pediatr Endocrinol Metab 2019 Jan 28;32(1):85-88. doi: 10.1515/jpem-2018-0266. PMID: 30530883
Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia.
Fukami M, Miyado M, Nagasaki K, Shozu M, Ogata T
Pediatr Endocrinol Rev 2014 Mar;11(3):298-305. PMID: 24716396
Aromatase inhibitors in pediatrics.
Wit JM, Hero M, Nunez SB
Nat Rev Endocrinol 2011 Oct 25;8(3):135-47. doi: 10.1038/nrendo.2011.161. PMID: 22024975
Aromatase and gynecomastia.
Braunstein GD
Endocr Relat Cancer 1999 Jun;6(2):315-24. doi: 10.1677/erc.0.0060315. PMID: 10731125

Prognosis

Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome.
Binder G, Nakamura A, Schweizer R, Ogata T, Fukami M, Nagasaki K
J Clin Endocrinol Metab 2021 Apr 23;106(5):1491-1500. doi: 10.1210/clinem/dgab054. PMID: 33513243
Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2.
Tan X, Wu X, Chen J, Wu Y, Li S, Chen X, Zhang X
J Pediatr Endocrinol Metab 2019 Jan 28;32(1):85-88. doi: 10.1515/jpem-2018-0266. PMID: 30530883
Lack of genomic rearrangements involving the aromatase gene CYP19A1 in breast cancer.
Fukami M, Suzuki J, Nakabayashi K, Tsunashima R, Ogata T, Shozu M, Noguchi S
Breast Cancer 2014 May;21(3):382-5. Epub 2013 Apr 30 doi: 10.1007/s12282-013-0471-5. PMID: 23625277

Clinical prediction guides

Local aromatase excess with recruitment of unusual promoters of CYP19A1 gene in prepubertal patients with gynecomastia.
Deberles E, Durand I, Mittre H, Reznik Y, Morera J
J Pediatr Endocrinol Metab 2022 Jul 26;35(7):924-930. Epub 2022 Jun 7 doi: 10.1515/jpem-2021-0757. PMID: 35667691
Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome.
Binder G, Nakamura A, Schweizer R, Ogata T, Fukami M, Nagasaki K
J Clin Endocrinol Metab 2021 Apr 23;106(5):1491-1500. doi: 10.1210/clinem/dgab054. PMID: 33513243
Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2.
Tan X, Wu X, Chen J, Wu Y, Li S, Chen X, Zhang X
J Pediatr Endocrinol Metab 2019 Jan 28;32(1):85-88. doi: 10.1515/jpem-2018-0266. PMID: 30530883
Lack of genomic rearrangements involving the aromatase gene CYP19A1 in breast cancer.
Fukami M, Suzuki J, Nakabayashi K, Tsunashima R, Ogata T, Shozu M, Noguchi S
Breast Cancer 2014 May;21(3):382-5. Epub 2013 Apr 30 doi: 10.1007/s12282-013-0471-5. PMID: 23625277
A potential rearrangement between CYP19 and TRPM7 genes on chromosome 15q21.2 as a cause of aromatase excess syndrome.
Tiulpakov A, Kalintchenko N, Semitcheva T, Polyakov A, Dedov I, Sverdlova P, Kolesnikova G, Peterkova V, Rubtsov P
J Clin Endocrinol Metab 2005 Jul;90(7):4184-90. Epub 2005 Apr 5 doi: 10.1210/jc.2004-2176. PMID: 15811932

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