Living with Mullerian aplasia and hyperandrogenism
A condition in females with a small or missing uterus, no periods, and higher male hormone levels causing acne and facial hair.
Understanding Mullerian aplasia and hyperandrogenism
The Mullerian ducts are structures in the embryo that develop into the uterus, fallopian tubes, cervix, and upper vagina. Women usually have an underdeveloped or absent uterus and normal external genitalia. They develop breasts and pubic hair normally, but menstruation does not begin by age 16. They are unable to have children. Higher-than-normal male hormone (androgen) levels can cause acne and excess facial hair, and some have kidney differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small uterus and differences in the vagina
- No menstrual periods by age 16
- Acne
- Excess facial hair
- High testosterone level
- Short 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 urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in WNT4 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); Urinary and male reproductive system specialists (urologists)
- 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
This condition is caused by changes in the WNT4 gene. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: mullerian duct failure and hyperandrogenism; müllerian aplasia and hyperandrogenism; müllerian duct failure and hyperandrogenism; wnt4 deficiency
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 Mullerian aplasia and hyperandrogenism.
Explore research for Mullerian aplasia and hyperandrogenism
Explore actively recruiting Mullerian aplasia and hyperandrogenism studies with HealthSpark.
Find actively recruiting studies for Mullerian aplasia and hyperandrogenism 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 and hyperandrogenism 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 and hyperandrogenism
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 and hyperandrogenism 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.