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

Georg Griesinger*, Konstantinos Dafopoulos, Askan Schultze-Mosgau, Annika Schroder, Ricardo Felberbaum, Klaus Diedrich

*Corresponding author for this work
26 Citations (Scopus)


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.

Original languageEnglish
JournalFertility and Sterility
Issue number2
Pages (from-to)452-454
Number of pages3
Publication statusPublished - 02.2005


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