Abstract

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

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