Urinary incontinence revealing Mayer-Rokitansky-Küster-Hauser syndrome in an early adolescent

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital condition marked by absence of the uterus and upper two-thirds of the vagina in females with a 46, XX karyotype. Type II MRKH includes renal, skeletal and occasionally cardiac or auditory anomalies. An early adolescent girl presented with lifelong dribbling of urine and recurrent urinary tract infection. She had normal external genitalia, was at Tanner Stage II and showed mild thoracic scoliosis. Abdominal ultrasonography demonstrated a horseshoe kidney with bilateral ectopic ureters, uterine agenesis and absence of the upper two-thirds of the vagina. These findings were confirmed on CT and MRI. Karyotyping was 46, XX; hearing and cardiac evaluations were normal. A multidisciplinary team advised ureteric reimplantation and planned vaginoplasty. This case illustrates an early atypical presentation of MRKH Type II. In girls with complex urinary anomalies, especially renal defects, MRKH should be considered-even before puberty.