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

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

doi:10.1016/j.fertnstert.2004.06.077

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

Clinic of Gynecology and Obstetrics

26 Citations (Scopus)

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.

Original language	English
Journal	Fertility and Sterility
Volume	83
Issue number	2
Pages (from-to)	452-454
Number of pages	3
ISSN	0015-0282
DOIs	https://doi.org/10.1016/j.fertnstert.2004.06.077
Publication status	Published - 02.2005

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title = "Mayer-Rokitansky-K{\"u}ster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome",

abstract = "Objective: To describe the association of Mayer-Rokitansky-K{\"u}ster- 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.",

author = "Georg Griesinger and Konstantinos Dafopoulos and Askan Schultze-Mosgau and Annika Schroder and Ricardo Felberbaum and Klaus Diedrich",

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T1 - Mayer-Rokitansky-Küster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome

AU - Griesinger, Georg

AU - Dafopoulos, Konstantinos

AU - Schultze-Mosgau, Askan

AU - Schroder, Annika

AU - Felberbaum, Ricardo

AU - Diedrich, Klaus

PY - 2005/2

Y1 - 2005/2

N2 - 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.

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

Abstract

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