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Living with Mayer Rokitansky Kuster Hauser syndrome type 1

A condition in which the uterus and most of the vagina did not form, in females who are otherwise typical.

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Understanding Mayer Rokitansky Kuster Hauser syndrome type 1

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 is an isolated form in which the uterus and part of the vagina are missing from birth.

Females with it are otherwise typical in appearance. About two-thirds of the vagina is missing along with the uterus. It starts in pregnancy and is noticed in the teen years.

Signs & symptoms

GARD doesn't list specific symptoms for this condition yet.

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include genetic specialists, kidney specialists, maternal-fetal medicine specialists and urinary and male reproductive system specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  4. Connect 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
Bring these questions to your next doctor visit
What options exist for the vagina and for having children?
Do my kidneys and other organs need to be checked?
What emotional support is available?

Quick facts

Symptoms usually startduring Pregnancy and as a Teenager
InheritanceAutosomal Dominant

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.

GeneticKidneyUrinary and Reproductive

Also known as: mayer rokitansky küster hauser syndrome type 1; mayer-rokitansky-kuster-hauser syndrome type 1; mayer-rokitansky-küster-hauser syndrome type 1; mrkh; mrkh (mayer rokitansky küster hauser) syndrome type 1; mrkh syndrome type 1

Patient organizations

Source: NIH GARD · Mayer Rokitansky Kuster Hauser syndrome type 1GARD ID 4737 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Mayer Rokitansky Kuster Hauser syndrome type 1.

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Explore research for Mayer Rokitansky Kuster Hauser syndrome type 1

Explore actively recruiting Mayer Rokitansky Kuster Hauser syndrome type 1 studies with HealthSpark.

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