Living with Aromatase deficiency
A rare inherited hormone condition with low estrogen and high testosterone that affects sexual development, growth, and bones.
Understanding Aromatase deficiency
Females are born with external genitals that may not look clearly female or male, and most do not develop breasts or periods in the teen years. Males may have a lower sex drive or small, undescended testes. Both can be unusually tall, have thin bones, and have insulin resistance, weight gain, or fatty liver.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Genitals that don't look clearly female or male at birth
- Ovarian cysts
- Extra body hair (hirsutism) in females
- Tall height with delayed bone maturity
- Insulin resistance and high blood sugar
- Bone pain and thin bones
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 urinary and male reproductive system 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.
- 4Connect with expert centers
Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Resolve: The National Infertility Association
- 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 Resolve: The National Infertility Association
- 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 recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital estrogen deficiency; congenital oestrogen deficiency; increased aromatase activity; maternal virilization due to placental aromatase deficiency; pseudohermaphroditism, female, due to placental aromatase deficiency
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
Broader rare-disease groups
- 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 deficiency.
Explore research for Aromatase deficiency
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- Recruiting studies from ClinicalTrials.gov
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