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.


METHODS
Descriptive case report.


METHODS
Tertiary university-affiliated care and referral facility.


METHODS
A 22-year-old woman with TAR syndrome referred to our department with primary amenorrhea.


METHODS
Patient history, physical and laboratory examination, diagnostic laparoscopy, and karyotyping.


METHODS
Physical features in the combination of syndromes presented.


RESULTS
Laparoscopy revealed absent uterus and complete vaginal agenesis.


CONCLUSIONS
This extremely rare case might provide further evidence of a link between the development of the skeletal system and the genitourinary tract.
Griesinger
Georg
G
Department of Obstetrics and Gynecology, University of Schleswig-Holstein, Luebeck, Germany. georg.griesinger@frauenklinik.uni-luebeck.de
Dafopoulos
Konstantinos
K
Schultze-Mosgau
Askan
A
Schroder
Annika
A
Felberbaum
Ricardo
R
Diedrich
Klaus
K
D000015:Abnormalities, Multiple / Q000473:pathology; D000328:Adult; D000568:Amenorrhea / Q000150:complications / Q000473:pathology*; D005260:Female; D006801:Humans; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013921:Thrombocytopenia / Q000150:complications*; D014599:Uterus / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*