Vaginal agenesis/Mayer-von-Rokitansky-Kuster-Hauser's syndrome (MRKH) is a condition where the uterus and vagina do not develop normally, but it can sometimes be associated with unusual development of other organs in the body. Girls who have this condition have normal female chromosomes (46,XX) and have normal growth and development. They may not menstruate when expected and fertility may be affected.
The diagnosis is made indirectly through laboratory and genetic testing to rule out other diagnoses, and supported by the absence of feminine structures on physical examination and imaging studies.
Treatment includes facilitating a functional vagina, often by non-operative techniques.