Mayer‐Rokitansky‐Küster‐Hauser syndrome presented as recurrent urinary tract infection in childhood (case report)

Abstract Background Mayer‐Rokitansky‐Küster‐Hauser syndrome (MRKH) is characterized by the absence of the uterus and upper two‐thirds of the vagina, normal secondary sexual development, and 46XX karyotype is one of the rare types of Mullerian agenesis. There may be associated congenital anomalies in other organ systems especially those with the same embryogenesis such as the urinary tract mostly in its upper parts present in 40% of cases including renal agenesis, ectopic kidney (unilateral or bilateral), renal hypoplasia, horseshoe kidneys, and hydronephrosis. Other organ systems also may be affected such as skeletal and auditory systems. MRKH is diagnosed mostly during or after adolescence because of unexpected amenorrhea or disturbed sexual experiences. Case report We present a 3‐year‐old girl coming with recurrent bouts of urinary tract infections diagnosed as having MRKH syndrome established by imaging and genetic studies. Our case is very rare and interesting because it presents itself as a recurrent urinary tract infection in early childhood which is rare and unusual. In this case, early detection helped us to prevent chronic kidney disease and also planning to perform necessary minimal but very important surgical procedures before initiation of sexual activities to relieve the psychosocial aspect of the syndrome both for the child and parents. Conclusion Health givers should keep in mind that rare syndromes may present as a repeated quite common problem or have confusing or conceiving presentations. This point will assist us in the early detection of rare diseases at an earlier age or stage.