Living with Estrogen resistance syndrome
A rare genetic hormone condition in which the body does not respond to estrogen, affecting puberty and bones.
Understanding Estrogen resistance syndrome
Estrogen levels are high but the body does not respond. In females, features include no breast development, no periods, and cysts on the ovaries or a small uterus. Both sexes can have delayed bone growth, lower bone density, and tall stature. Problems with blood sugar and blood fats may also occur. It is noticed in the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- No pubertal development
- No periods (primary amenorrhea)
- Cysts on the ovaries
- Delayed bone age
- Weak bones (osteopenia or osteoporosis)
- Tall stature
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 ESR1 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); Women’s reproductive health specialists (obstetricians / gynecologists)
- 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
Changes in the ESR1 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: estrogen insensitivity; estrogen resistance
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 Estrogen resistance syndrome.
Explore research for Estrogen resistance syndrome
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- Recruiting studies from ClinicalTrials.gov
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