hrp0086p2-p435 | Gonads & DSD P2 | ESPE2016
, Liyanage Chaminda
, Naotunna Chamidri
Introduction: 49XXXXY syndrome is the rarest X chromosome aneuploidy with an approximate incidence of 1: 85 000100 000 male births. The classic triad of symptoms include mental retardation, hypogonadism and radioulnar synostosis along with congenital heart diseases; Patent Ductus Arteriosus being the commonest defect reported, Distinct facial features, skeletal defects, cerebral and renal defects. To the best of our knowledge this is the first reported case of 49XXXXY sy...