Living with Mullerian aplasia
A condition in females in which the uterus is small or missing and periods do not start.
Understanding Mullerian aplasia
The Mullerian ducts are structures in the embryo that develop into the uterus, fallopian tubes, cervix, and upper vagina. Females usually have an underdeveloped or absent uterus and normal external genitalia. Breasts and pubic hair develop normally at puberty, but menstruation does not begin by age 16. They are unable to have children. Higher-than-usual androgen levels can cause acne and facial hair, and kidney differences may be present. It is noticed in the teen years or adulthood.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Small or missing uterus
- No menstrual periods by age 16
- Acne
- Excess facial hair
- Kidney differences in some people
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, maternal-fetal medicine specialists, urinary and male reproductive system specialists and women’s reproductive health specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Maternal-fetal medicine specialists (pregnancy-related); Urinary and male reproductive system specialists (urologists); 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 Beautiful You MRKH Foundation and other patient organizations
- 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 genes (also called variants) cause this condition. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: aplasia of müllerian ducts; aplasia of the mullerian ducts; aplasia of the müllerian ducts; mullerian duct failure; müllerian aplasia; müllerian duct failure
Patient organizations
- Beautiful You MRKH FoundationMullerian aplasia · United States
- InterConnectMullerian aplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Mullerian aplasia.
Explore research for Mullerian aplasia
Explore actively recruiting Mullerian aplasia studies with HealthSpark.
Find actively recruiting studies for Mullerian aplasia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Mullerian aplasia studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Mullerian aplasia
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Mullerian aplasia experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.