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aromatase excess syndrome (AEXS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aromatase excess syndrome

MONDO:0007690

Also known as:AEXSfamilial hyperestrogenismgynecomastia, familial, due to increased aromatase activity

Overview

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.

GeneticsAutosomal dominant

ResearchLimited published research (4 articles)

Clinical Presentation

Features include: Gynecomastia, Short stature, and Accelerated skeletal maturation.

Organ System	Phenotype Count	Example Features
Growth and development	1	Short stature
Bones and joints	1	Accelerated skeletal maturation

Explore clinical features

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for aromatase excess syndrome.

4 publications have been identified in PubMed for aromatase excess syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Ke Y (2025). [PMID: 40257231](https://pubmed.ncbi.nlm.nih.gov/40257231/). *Biomol Biomed*. [Review / Meta-Analysis]
Bas F (2025). [PMID: 41269985](https://pubmed.ncbi.nlm.nih.gov/41269985/). *Horm Res Paediatr*. [Case Report / Case Series]
Fedeli V (2024). [PMID: 39056753](https://pubmed.ncbi.nlm.nih.gov/39056753/). *Cells*. [Basic Science / Preclinical]
Giannopoulou EZ (2024). [PMID: 39634186](https://pubmed.ncbi.nlm.nih.gov/39634186/). *Front Endocrinol (Lausanne)*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:139300

Orphanet

European rare disease database

Orphanet:178345

GARD

Genetic and Rare Diseases Info Center

GARD:12494

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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aromatase excess syndrome

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team