Living with Aromatase excess syndrome
A rare inherited condition with high estrogen that causes breast growth in males and early bone growth that ends sooner.
Understanding Aromatase excess syndrome
Males develop breast enlargement (gynecomastia) in late childhood or the teen years. Their bones grow fast and stop growing sooner, leading to short adult height. Females rarely have signs, but may have increased breast growth, irregular periods, and short stature. Fertility is usually normal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Breast enlargement in males (gynecomastia)
- Bones that mature early (advanced bone age)
- Short adult height
- Sparse facial hair
- High estrogen levels on blood tests
- Increased breast growth in females
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, hormone specialists, maternal-fetal medicine specialists and women’s reproductive health specialists.
- 3Consider genetic testing
Changes in CYP19A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Women’s reproductive health specialists (obstetricians / gynecologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the CYP19A1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: aexs; aromatase activity, increased; familial gynecomastia, due to increased aromatase activity; familial hyperestrogenism; gynecomastia, familial, due to increased aromatase activity; gynecomastia, hereditary
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Aromatase excess syndrome.
Explore research for Aromatase excess syndrome
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