Unilateral Renal Agenesis and the Awareness of Mostyn Embrey Syndrome

Background: Mostyn Embrey syndrome is a rare disorder associated with unilateral renal agenesis and malformations of the female reproductive tract. Delayed diagnosis is associated with serious diagnostic difficulties that may lead to inappropriate management including harmful surgery. Aim: The aim of this paper is to describe the first case of this rare syndrome in Iraq and, and to make a recommendation that pediatricians, and pediatric nephrologists need to be aware of this syndrome to avoid unexpected presentations which may lead to delayed diagnosis and sometimes to inappropriate management. Case report: An 18-year-old female presented with acute abdominal pain and poor urine output associated with retention of urine; about three years after the onset of menses. The pain was radiating to the back and pelvis. Her menstrual cycles started at the age of fifteen, and were lasting seven days. Cycles were associated with normal flow. The first physician the patient consulted considered the diagnosis of uterine tumor and the need for hysterectomy, but the family of the patient consulted another physician. Vaginal exam was performed and showed bulging left vaginal wall. The diagnosis of hematocolpos was made. A clotted blood was drained by transvaginal approach. Abdominal MRI showed left renal agenesis, and two uterine bodies, cervices, and vaginas with normal myometrium and endometrium (uterine didelphys), and normal ovaries. Conclusion: A greater awareness of this syndrome by pediatricians and pediatric nephrologists should contribute to making early accurate diagnosis and early appropriate management before puberty.