hrp0097p1-141 | Multisystem Endocrine Disorders | ESPE2023

Bilateral adrenalectomy for Cushings syndrome in Infantile McCune Albright Syndrome(MAS)-A Case Report

Jayasundara Imalka , Atapattu Navoda , Siriwardhane Dinendra , Naotunna Chamidri , Hoole Thabitha

McCune Albright Syndrome is a rare disease characterized by classic triad of polyostotic fibrous dysplasia, café-au-lait spots and endocrine dysfunction and out of them cushings syndrome is a fatal manifestation which might need bilateral adrenalectomy. We report a 6 months old baby who presented to Paediatric Endocrinology Unit due to elevated alkaline phosphatase levels while investigating for failure to thrive, hypotonia and global developmental delay. This child was...

hrp0092p2-80 | Diabetes and Insulin | ESPE2019

Effect of Multiple dose Insulin on Glycaemic Control and Adiposity in Children and Adolescents with Type 1 Diabetes; a Sri Lankan Experience

Hashim Raihana , Hoole Thabitha , Prematilake Dilusha , Kollurage Udeni , Gunasekara Buddi , Suntharesan Janani , Atapattu Navoda

Objective: To describe the glycaemic control and change in body mass index (BMI) in children and adolescents with type 1 diabetes (T1DM) after converting to multiple dose insulin regime (MDI) from fixed dose insulin regime (FD).Methods: A retrospective observational study on children with T1DM who were converted to MDI from FD at the Lady Ridgeway Hospital from January 2013 to June 2018. Mean haemoglobin A1c(H...

hrp0097p1-73 | Fat, Metabolism and Obesity | ESPE2023

Insulin as a treatment modality for familial chylomicronemia syndrome in resource-limited settings- A Case series

Jebaseeli Hoole Thabitha , Suntharesan Jananie , Jayasundara Imalka , Siriwardne Dinendra , Naotunna Chamidri , Jasinghe Eresha , Atapattu Navoda

Introduction: Familial chylomicronemia syndrome (FCS) is an extremely rare monogenic disease with a prevalence of 1-2:1,000,000. Defects in lipoprotein lipase (LPL) are the main cause. Recurrent acute pancreatitis is a life-threatening complication of FCS. Insulin therapy is known to be a mode of treatment for hypertriglyceridemia.Case series: We present four children with genetically confirmed LPL deficiency followed up...

hrp0097p2-49 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Case series: WT 1 mutation- an important differential in 46, XY disorders of sexual development (DSD)

Jebaseeli Hoole Thabitha , Siriwardne Dinendra , Naotunna Chamidri , Jayasundara Imalka , Atapattu Navoda

The Wilms' Tumour (WT1) gene is thought to play an important role in nephrogenesis, genitourinary development, and sex determination. We report three cases followed up in a tertiary care center in Sri Lanka. All three patients were referred for evaluation of ambiguous genitalia (stretched penile length <= 2cm, penoscrotal hypospadiasis in all three patients. Patient one had bilateral palpable testes in inguinal canal. Patients two and three did not have any palpable te...