Aromatase excess syndrome
Synonyms: AEXS · Familial hyperestrogenism · Hereditary prepubertal gynecomastia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aromatase excess syndrome | AEXS · Familial hyperestrogenism · Hereditary prepubertal gynecomastia |
| fr | Syndrome d'excès d'aromatase | AEXS · Gynécomastie prépubertaire héréditaire |
| de | Aromatase-Exzess-Syndrom | AEXS · Hyperöstrogenismus, familiärer · Präpubertäre Gynäkomastie, hereditäre |
| es | Síndrome de exceso de aromatasa | AEXS · Ginecomastia prepuberal hereditaria · Hiperestrogenismo familiar |
| it | Sindrome da eccesso di aromatasi | |
| nl | Syndroom van overmaat aan aromatase | AEXS · Erfelijke prepuberale gynaecomastie · Familiaal hyperoestrogenisme |
| pt | Síndrome de excesso de aromatase | |
| pl | Zespół nadmiaru aromatazy | AEXS · Dziedziczna ginekomastia przed pokwitaniem · Rodzinny hiperestrogenizm |
| cs | Syndrom nadbytku aromatázy | AEXS · Familiární hyperestrogenismus · Hereditární prepubertální gynekomastie |
| uk | Синдром надлишку ароматази | AEXS · Сімейна гіперестрогенія · Спадкова препубертатна гінекомастія |
| zh | 芳香化酶过多综合征 | 遗传性青春期前男性乳腺发育 |
| tr | Aromataz fazlalığı sendromu | AEXS · Ailesel hiperöstrojenizm · Kalıtsal prepubertal jinekomasti |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 139300 | E | validated | |
| ICD-10 | E30.1 | NTBT | attributed | validated |
| ICD-11 | 5A92 | NTBT | index | validated |
| MONDO | 0007690 | E | validated | |
| MeSH | C000591739 | E | validated | |
| UMLS | C1970109 | E | validated | |
| GARD | 12494 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:435564Genetic precocious puberty in female
rare genetic diseases - ORPHA:178040Rare peripheral precocious puberty
rare genetic diseases; rare endocrine diseases - ORPHA:650187Rare peripheral precocious puberty in female
rare gynecological and obstetric diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP19A1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:2594 | ENSG00000137869 | 107910 | 15q21.2 | cytochrome P450 family 19 subfamily A member 1 | 21470988[PMID]_22319526[PMID]_24064691[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 24716396[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24716396[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2025-11-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0034699 | Elevated aromatase activity | |
| HP:0000771 | Gynecomastia | |
| HP:0025139 | Increased serum estrone | |
| Frequent (79-30%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0030341 | Decreased circulating follicle stimulating hormone concentration | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0025134 | Increased serum estradiol | |
| HP:0007464 | Sparse facial hair | |
| Occasional (29-5%) | ||
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0010313 | Breast hypertrophy | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0008734 | Decreased testicular size | |
| HP:0100878 | Enlarged uterus | |
| HP:0000858 | Irregular menstruation | |
| HP:0000026 | Male hypogonadism | |
| HP:0003502 | Mild short stature | |
| HP:0010465 | Precocious puberty in females | |
| HP:0010314 | Premature thelarche | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 34538723[PMID]_22024975[PMID]_34538723[PMID]_33513243[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/178345
- This record as JSON: /data/d/178345.json