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

Rida Asghar; Uzma Zaman; Nayyar Farukh; Hina Ayub; Nazish Sehar; Haseena Zeb

Rida Asghar Women and Children Hospital, D.I.Khan, KpK
Uzma Zaman Gomal Medical College, D.I.Khan, KpK
Nayyar Farukh Gomal Medical College, D.I.Khan, KpK
Hina Ayub Gomal Medical College, D.I.Khan, KpK
Nazish Sehar Gomal Medical College, D.I.Khan, Kp, Pakistan
Haseena Zeb Women and Children Hospital, D.I.Khan, KpK

Keywords: Mckusick–kaufman syndrome, MKKS gene, Hydrometrocolpos

Abstract

McKusick-Kaufman Syndrome (MKS) is a genetic disorder affecting the development of the heart, genitals, and limbs. Clinical manifestations of MKS include polydactyly, labial fusion, and cryptorchidism; in some cases, severe cardiac abnormalities are also observed. The MKS gene associated with this disorder is located on chromosome 20. The primary goal of treatment is symptom management; Surgical intervention may be recommended based on genetic testing and clinical evaluation. Patient prognosis depends on the severity of the issues. A 15-year-old girl was treated for hydrometra, polydactyly with hand and foot deformities, and a mild atrial septal defect (ASD). As genetic testing was unavailable at the time, most data were collected through routine examinations and simple clinical observations. Multidisciplinary collaboration was crucial for accurate diagnosis.