Mayer-Rokitansky-Küster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome

Objective: To describe the association of Mayer-Rokitansky-Küster- Hauser (MRKH) syndrome and thrombocytopenia-absent radius (TAR) syndrome. Design: Descriptive case report. Setting: Tertiary university-affiliated care and referral facility. Patient(s): A 22-year-old woman with TAR syndrome referred to our department with primary amenorrhea. Intervention(s): Patient history, physical and laboratory examination, diagnostic laparoscopy, and karyotyping. Main Outcome Measure(s): Physical features in the combination of syndromes presented. Result(s): Laparoscopy revealed absent uterus and complete vaginal agenesis. Conclusion(s): This extremely rare case might provide further evidence of a link between the development of the skeletal system and the genitourinary tract.