Living with Mayer-Rokitansky-Küster-Hauser syndrome type 2
A condition affecting the reproductive and urinary systems, and sometimes the spine and hearing.
Understanding Mayer-Rokitansky-Küster-Hauser syndrome type 2
Most people with it are female, though males can have it. Females can have an absent or unusually shaped uterus. Both sexes can have unusual reproductive tubes, kidney differences, and short stature. It may not be noticed until after puberty.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Absent or small uterus
- Heart-shaped uterus
- Absent or misplaced kidney
- Short stature and short neck
- Differences in the spine bones and ribs
- No sperm in semen (azoospermia)
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 digestive system specialists, genetic specialists, kidney specialists and maternal-fetal medicine 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
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Kidney specialists (nephrologists); Maternal-fetal medicine specialists (pregnancy-related)
- 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: atypical mrkh (mayer rokitansky kuster hauser) syndrome; atypical mrkh syndrome; klippel-feil deformity, conductive deafness, and absent vagina; mayer-rokitansky-kuster-hauser syndrome, type ii; mrkh syndrome type 2; mrkh, type ii
Patient organizations
- Beautiful You MRKH FoundationMayer-Rokitansky-Küster-Hauser syndrome type 2 · 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-Küster-Hauser syndrome type 2.
Explore research for Mayer-Rokitansky-Küster-Hauser syndrome type 2
Explore actively recruiting Mayer-Rokitansky-Küster-Hauser syndrome type 2 studies with HealthSpark.
Find actively recruiting studies for Mayer-Rokitansky-Küster-Hauser syndrome type 2 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 Mayer-Rokitansky-Küster-Hauser syndrome type 2 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 Mayer-Rokitansky-Küster-Hauser syndrome type 2
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 Mayer-Rokitansky-Küster-Hauser syndrome type 2 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.