Mayer-Rokintansky-Kuster-Hauser Syndrome Associated with Atrial Septal Defect, Partial Anomalous Pulmonary Venous Connection and Unilateral Kidney – An Unusual Triad of Anomalies
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Mohd Ashraf Ganie
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.
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- A Warning Sign from the Thyroid
- Variable Associations of Klinefelter Syndrome in Children
- Diabetes Insipidus in a Young Child
- Evaluation and Follow-up of Clinically Euthyroid Children with Normal Free T4 and Suppressed TSH
- Bicalutamide plus Anastrozole for the Treatment of Gonadotropin-Independent Precocious Puberty in Boys with Testotoxicosis: A Phase II, Open-Label Pilot Study (BATT)
- Endocannabinoid (EC) Receptor, CB1, and EC Enzymes' Expression in Primary Adipocyte Cultures of Lean and Obese Pre-pubertal Children in Relation to Adiponectin and Insulin
- The Relationship of Insulin Secretion and GAD65 Antibody Levels at Diagnosis on Glycemic Control in Type 2 Diabetes
- Morning Cortisol is Not Associated with Truncal Fatness or Resting Blood Pressure in Children: Cross-Sectional and 1-2 Year Follow-Up Analyses
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- Adolescent Acromegaly: Clinical Parameters and Treatment Outcome
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- Case Series of Neonatal Hypocalcemia due to Pseudohypoparathyroidism
- A Case of Antenatal Bartter Syndrome with Sensorineural Deafness
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