Aromatase excess syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: GYNECOMASTIA, HEREDITARY, INCLUDED
AROMATASE ACTIVITY, INCREASED GYNECOMASTIA, FAMILIAL, DUE TO INCREASED AROMATASE ACTIVITY, INCLUDED
AEXS
Familial hyperestrogenism
Hereditary prepubertal gynecomastia
Number of Symptoms 4
OrphanetNr: 178345
OMIM Id: 139300
ICD-10: E30.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Anomaly of puberty or/and menstrual cycle
 -Rare gynecologic or obstetric disease
Anomaly of puberty or/and menstrual cycle of genetic origin
 -Rare genetic disease
Precocious puberty
 -Rare endocrine disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
(HPO:0000771) Gynecomastia 53 / 7739
2
(HPO:0005616) Accelerated skeletal maturation 46 / 7739
3
(HPO:0004322) Short stature 1232 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Aromatase excess syndrome 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).
Clinical Description OMIM Excess estrogen in boys causes gynecomastia, a premature growth spurt, early fusion of epiphyses, and decreased adult height. Hemsell et al. (1977) reported a case of gynecomastia apparently due to excessive peripheral conversion of androgen to estrogen as ...
Molecular genetics OMIM In 3 patients, Shozu et al. (2003) determined that gynecomastia was caused by gain-of-function mutations in the aromatase gene. Heterozygous inversions in 15q21.2-q21.3 caused the coding region of the aromatase gene to lie adjacent to constitutively active cryptic ...