Living with Mayer-Rokitansky-Kuster-Hauser syndrome
A condition in which the uterus and vagina are underdeveloped or missing, often noticed when periods don't start.
Understanding Mayer-Rokitansky-Kuster-Hauser syndrome
Without a uterus, there are no periods. The first sign is often that periods have not started by age 15. People have a 46,XX chromosome pattern, normal external genitalia, working ovaries, and normal breast and pubic hair growth. Type 1 affects only reproductive organs. Type 2 can also affect the kidneys, hearing, heart, and spine bones.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- No periods by age 15 (primary amenorrhea)
- Absent uterus
- Underdeveloped vagina
- Abdominal pain
- Painful sex (dyspareunia)
- Kidney differences
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, kidney specialists, maternal-fetal medicine specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists); 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 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 inherited in an autosomal dominant way, so a change in one copy of the gene can be enough.
Also known as: cauv; congenital absence of uterus and vagina; mayer rokitansky küster hauser syndrome; mayer-rokitansky-küster-hauser syndrome; mrkh; mrkh syndrome
Patient organizations
- Beautiful You MRKH FoundationMayer-Rokitansky-Kuster-Hauser syndrome · United States
- InterConnectMayer-Rokitansky-Kuster-Hauser syndrome · United States
- The MAGIC FoundationMayer-Rokitansky-Kuster-Hauser syndrome · United States
- Resolve: The National Infertility AssociationInfertility · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Mayer-Rokitansky-Kuster-Hauser syndrome.
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