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Primary amenorrhea. Ultrasound examination suggests normal ovaries and no uterus.
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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 Müllerian duct anomaly specifically, congenital absence of the uterus and upper vagina.
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Imaging features are consistent with Mayer-Rokitansky-Küster-Hauser syndrome type 1. 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 counseling +/- referral to a fertility clinic.
- 1. Spencer C. Behr, Jesse L. Courtier, Aliya Qayyum. Imaging of Müllerian Duct Anomalies. (2012) RadioGraphics. 32 (6): E233-50. doi:10.1148/rg.326125515 - Pubmed
- 2. http://emedicine.medscape.com/article/953492-overview
- 3. http://rarediseases.org/rare-diseases/mayer-rokitansky-kuster-hauser-syndrome/
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