hrp0095p2-19 | Adrenals and HPA Axis | ESPE2022

A case series on Adrenal Cortical Tumors in Children, Experience from Colombo, Sri Lanka

Naotunna Randika , Siriwardana Dinendra , Gamage Senani , Lakmini Chamila , Gunaratna Sadani , Atapattu Chamidri Navoda

Introduction: Paediatric adrenocortical tumors (ACT) include both benign adenomas and highly virulent malignant tumors. However, it is very rare among children. The aim of this study is to evaluate the clinicopathological data of children presented with ACT and to assess the survival.Methods: This is a retrospective cohort study which includes patients diagnosed with ACT from August 2020 to July 2021 and followed up at L...

hrp0094p2-418 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

46 XX, SRY negative testicular DSD presenting with VACTERL Syndrome

Suntharesan Jananie , Gunasekara Budhi , Lakmini Chamila , De Silva Uamd , Navoda Atapattu

Introduction: Sex determining region Y (SRY gene) located in chromosome Yp11.3, initiate gonadal differentiation into testes, which subsequently leads to development of Wolffian duct, male external genitalia, and regression of Mullerian duct. Not only SRY, SOX9, FGF9, DAX1, WT1, RSPO1, and SOX10 contribute for gonadal differentiation. Imbalance of expression of above genes in the absence of SRY leads to 46, XX testicular DSD. We describe a case of 46...

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...