title: Mayer-Rokintansky-Kuster-Hauser syndrome associated with atrial septal defect, partial anomalous pulmonary venous connection and unilateral kidney--an unusual triad of anomalies.
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.
authors.affiliation: Departments of Endocrinology, Cardiology, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, J&K, India. ashrafendo@rediffmail.com
authors.forename: Mohd Ashraf
authors.initials: MA
authors.lastname: Ganie
authors.forename: Bashir Ahmed
authors.initials: BA
authors.lastname: Laway
authors.forename: Sanjeed
authors.initials: S
authors.lastname: Ahmed
authors.forename: Mohd Sultan
authors.initials: MS
authors.lastname: Alai
authors.forename: G N
authors.initials: GN
authors.lastname: Lone
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000150:complications; D000015:Abnormalities, Multiple; D000293:Adolescent; D000013:Congenital Abnormalities; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000150:complications*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D009095:Mullerian Ducts / Q000002:abnormalities; D011667:Pulmonary Veins / Q000002:abnormalities*; D019170:Somites / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities