Müllerian aplasia

Müllerian aplasia, also known as Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome) or vaginal agenesis, is a condition where the uterus and vagina either do not develop fully or are completely absent at birth. It affects people who are genetically female (46,XX chromosomes). The condition happens during fetal development when the structures that normally form the uterus, cervix, and upper vagina — called the Müllerian ducts — fail to develop properly. The ovaries are usually normal and fully functional, which means the body still produces female hormones. As a result, puberty happens normally, including breast development and pubic hair growth. The most common way this condition is discovered is when a young woman does not get her first period, usually around age 15 to 18. This is called primary amenorrhea. Because the vagina may be absent or very short, sexual intercourse can also be difficult or impossible without treatment. Kidney and spine differences are sometimes found alongside this condition, especially in a more complex form called MRKH Type 2 or MURCS association. Treatment focuses on creating a functional vagina, which can be done through non-surgical stretching techniques (dilation therapy) or surgery. People with this condition cannot carry a pregnancy themselves, but they can have biological children through egg retrieval and a gestational surrogate. Emotional and psychological support is an important part of care, as the diagnosis can be deeply impactful.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.What type of Müllerian aplasia do I have — is it isolated or part of a more complex syndrome?,Should I have imaging of my kidneys and spine, and what were the results?,What are my options for creating a functional vagina, and which do you recommend for me?,Can I use my own eggs to have a biological child through surrogacy, and how would that process work?,Should I have genetic testing, and what could the results mean for me or my family members?,Can you refer me to a counselor or psychologist who has experience with this condition?,Are there patient support groups or communities you would recommend I connect with?

Common questions about Müllerian aplasia

Related conditions

Other rare diseases commonly researched alongside Müllerian aplasia.

• Androgen insensitivity syndrome→
• Vaginal atresia→