Mayer-Rokitansky-Küster-Hauser syndrome

ABSTRACT

@#Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome is a rare disease found in 14,000-5,000 live female births. It presents with vaginal and uterine agenesis in females. Ultrasound of the pelvis is the initial imaging of choice. Pelvic Magnetic Resonance Imaging (MRI) is the gold standard to confirm the presence of a rudimentary uterus. Surgical and nonsurgical options to create a neovagina may be offered to the patient. Counselling of patients is necessary. This report presents a case of a 1 5-year old phenotypic female with cyclic abdominal pain subsequently noted with absent vaginal canal. Ultrasound and MRI of the pelvis showed the absence of a uterus and upper vagina with intact ovaries. Karyotyping showed 46, XX, confirming that the patient is a female. Analgesics were prescribed for the abdominal pain. Regular counselling was provided by Adolescent Medicine.