Hematometra in a 15-Year-old Female with Mckusick-Kaufman Syndrome: A Case Report

  • Rida Asghar Women and Children Hospital, D.I.Khan, Kp, Pakistan.
  • Nayyar Farukh Gomal Medical College, D.I.Khan, KPK, Pakistan
  • Hina Ayub Gomal Medical College, D.I.Khan
  • Nazish Sehar Gomal Medical College, D.I.Khan, Kp, Pakistan.
  • Haseena Zeb Women and Children Hospital, D.I.Khan, Kp, Pakistan
Keywords: Mckusick–kaufman syndrome, MKKS gene, Hydrometrocolpos, Polydactyly, Atrial septal defect


McKusick-Kaufman Syndrome (MKS) is a genetic disorder that affects limb development, genital development, and heart function. Clinical features of MKKS may include extra digits, fused labia or undescended testes, and, occasionally, severe heart abnormalities. Chromosome 20 contains the MKKS gene, which is responsible for causing this condition. The primary focus of treatment is symptom management, which may include surgical interventions when needed, based on a clinical assessment and genetic testing. A patient's prognosis depends on the severity of the associated complications. In this case study, we present a 15-year-old female patient with hydrometrocolpos, postaxial polydactyly in both hands and feet, and a small atrial septal defect (ASD). We collected data primarily through comprehensive clinical observations and fundamental examinations due to the lack of genetic testing facilities. It is critical to take a multidisciplinary approach when diagnosing and treating MKS, as this case demonstrates.

Case Report