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Case Reports
. 2005 Feb;83(2):452-4.
doi: 10.1016/j.fertnstert.2004.06.077.

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

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Case Reports

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

Georg Griesinger et al. Fertil Steril. 2005 Feb.
Free article

Abstract

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.

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