hrp0086p2-p435 | Gonads & DSD P2 | ESPE2016

An Infant with 49XXXXY Syndrome: A Case Report from Sri Lanka

Atapattu Navoda , Liyanage Chaminda , Naotunna Chamidri

Introduction: 49XXXXY syndrome is the rarest X chromosome aneuploidy with an approximate incidence of 1: 85 000–100 000 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...

hrp0095p2-211 | Multisystem Endocrine Disorders | ESPE2022

McCune Albright Syndrome in children- Case series from a Tertiary Care Centre- Sri Lanka

Siriwardhane Dinendra , Atapattu Navoda , Naotunna Chamidri , Hashim Raihana , Premathilake Dilusha , Gunasekara Buddhi , Suntharesan Jananie , De Silva Dimarsha , Lakmini Chamila , Gamage Senani

McCune Albright syndrome (MAS) is rare with a prevalence of 1 in 100,000 to 1 in 1,000,000, characterized by the triad of monostotic/polyostotic fibrous dysplasia (FD), café au lait skin pigmentation, and hyperfunctioning endocrinopathies caused by somatic activating mutations of the GNAS1 gene encoding the α subunit of guanine nucleotide-binding protein. Here we are reporting three cases of MAS who are actively being followed up in a leading Children’s Hosp...