Mayer-Rokitansky-Küster-Hauser syndrome (type A)

Case contributed by Dr Sophie O'Dowd

Presentation

19 year old female presenting with primary amenorrhoea. Ultrasound examination suggests normal ovaries and no uterus.

Patient Data

Age: 19
Gender: Female

There is absence of the uterus and upper two-thirds of the vagina. Normal appearances of the lower third of the vagina, both ovaries and both kidneys. The urinary bladder and rectum are unremarkable. No pelvic free fluid or lymphadenopathy. Overall appearances are consistent with a Mullerian duct anomaly specifically, congenital absence of the uterus and upper vagina.

Case Discussion

MRI in this case clarifies the diagnosis and differentiates from other differentials including MRKH type 2 and hematocolpometra due to an imperforate hymen. Surgical and non-surgical options are available for creation of a vagina to allow for sexual functioning. Assisted fertility techniques would be required and the patient would require counselling +/- referral to a fertility clinic.

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Case information

rID: 44703
Case created: 2nd May 2016
Last edited: 3rd Sep 2017
System: Gynaecology
Inclusion in quiz mode: Included

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