Beyond Monosomy: A Mosaic Turner Syndrome Presenting with Coarctation of the Aorta with Left Persistent Superior Vena Cava and Primary Ovarian Failure

Abstract

Turner syndrome is a rare but not uncommon genetic syndrome due to partial or complete loss of X-chromosome in females. Various chromosome anomalies identified are 45X0, isochromosome Xq, ring X, deletion Xp, or an abnormal Y chromosome, most common being 45X0.Clinical features depends on the type of chromosome anomaly present while generally include short stature, primary amenorrhea, hypogonadism. Hereby, we report a case of 18 year old female with Mosaic turner syndrome who presented with clinical finding of short stature with primary amenorrhea with coarctation of aorta. Patient was managed with multi-disciplinary approach that include growth hormone replacement, puberty induction and planning for ductal stenting.