Mayer-Rokitansky-Küster-Hauser syndrome

Case contributed by Mohammad Taghi Niknejad
Diagnosis certain


Primary amenorrhea and periodic abdominal pain.

Patient Data

Age: 20 years
Gender: Female

The right kidney is absent, and the left kidney shows compensatory hypertrophy.

The uterus is not seen in anatomical location. A 58 × 52 mm thick-walled cystic lesion with internal septations and without an enhancing solid component is noted in the pelvis. There is also a uterine bud with functioning endometrium in the right pelvis lateral to the mentioned cystic lesion.

The L5 vertebra is sacralized.

Case Discussion

The findings align with Mayer-Rokitansky-Küster-Hauser syndrome (atypical form), also known as Müllerian aplasia and belongs to class I Mullerian duct anomalies. It is a congenital anomaly characterized by vaginal and uterine aplasia or agenesis, usually associated with a range of other genitourinary tract abnormalities.

Two distinct forms are outlined:

  • typical form (type A) characterized by congenital absence of the uterus and upper two-thirds vagina with normal ovaries and fallopian tubes

  • atypical form (type B) includes associated abnormalities of the ovaries and fallopian tubes and renal anomalies. Renal anomalies such as renal agenesis, ectopic kidney, fused kidney, renal hypoplasia, and horseshoe kidney may be seen in 30-40% of patients with the syndrome

Imaging modalities, such as ultrasound, CT, or MRI (modality of choice), enable the characterization of uterine anomalies, uterine buds with or without functioning endometrium, and any associated renal tract anomaly.

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