McKusick Kaufman syndrome, complications arising at puberty

McKusick Kaufman Syndrome (MKS), a rare genetic condition, presents in the neonatal period with a classic triad of postaxial polydactyly, congenital heart disease, and hydrometrocolpos. The diagnosis is typically clinical, based on the presence of polydactyly and hydrometrocolpos.

We report the case of a 13-year-old female, who was diagnosed with MKS in infancy and underwent vaginal reconstructive surgery for a urogenital sinus. She was lost to follow-up thereafter. She presented to our institution at age 13 with pyometra, pyosalpinx, and tubo-ovarian abscess due to a stenotic cervix obstructing menstrual outflow.

Gynecologic follow-up is imperative in patients with history of vaginal reconstruction to monitor for hematometra from outflow obstruction to prevent life threatening secondary bacterial infections.