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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Editorial Board Member: Darendeliler, Feyza / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Lanes M. D., Roberto / Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / LaFranchi, Stephen H. / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Wabitsch, Martin / Werther, George / Zadik, Zvi

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Mayer-Rokintansky-Kuster-Hauser Syndrome Associated with Atrial Septal Defect, Partial Anomalous Pulmonary Venous Connection and Unilateral Kidney – An Unusual Triad of Anomalies

Mohd Ashraf Ganie / Bashir Ahmed Laway / Sanjeed Ahmed2 / Mohd Sultan Alai1 / G. N. Lone1

1Department of Endocrinology, Department of Cardiology, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, J&K, India

2Department of Radiodiagnosis, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, J&K, India

Corresponding author: Mohd Ashraf Ganie,

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 23, Issue 10, Pages 1087–1091, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: 10.1515/jpem.2010.172, January 2010

ABSTRACT

Mayer Rokintansky–Kuster–Hauser syndrome is characterized by the congenital absence of the vagina with a variety of Müllerian duct anomalies. Because of normal sexual development, the syndrome usually remains undetected until primary amenorrhea and/or difficulty in attempting sexual intercourse result in the diagnosis. MRKHS frequently is associated with anomalies of the urinary tract (unilateral agenesis or ectopia of one or both kidneys, horse-shoe kidney), cervico-thoracic region (asymmetric, fused or wedged vertebrae, scoliosis and Klippel-Feil anomaly), congenital cardiac defects, hearing defects, and digital anomalies of varying severity. Congenital heart diseases in the form of atrial septal defect, Holt-Oram Syndrome with or without aorticopulmonary window, pulmonary stenosis etc in association with MRKHS have been described in the literature. We present a case of MRKHS with unilateral agenesis of the kidney and atrial septal defect with partial anomalous pulmonary venous connection. This combination of anomalies has not been reported in the literature so far. The various presentations and the pathogenesis of the condition are discussed.

KEY WORDS: Mayer-Rokintansky–Kuster–Hauser syndrome; MURCS; atrial septal defect with partial anomalous pulmonary venous connection; renal agenesis; primary amenorrhea

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