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...

hrp0097p2-88 | Multisystem Endocrine Disorders | ESPE2023

A glimpse of the presentation of Pseudohypoparathyroidism in children.A Case series from a tertiary care Pediatric Endocrine center in Sri Lanka.

Gamage Dilhara , Jayasundara Imalka , Siriwardana Dinendra , Atapattu Navoda

Background: Pseudohypoparathyroidism (PHP) is a condition primarily caused by impaired hormonal signaling through the stimulatory G protein (G2 alpha) for the activation of adenyl cyclase, which is coupled to G protein receptors(1). This occurs due to the molecular defects in the receptors related to the alpha subunit. (1–3). The condition results in resistance to Parathyroid hormone (PTH) and other hormones. Less than 60 cases have been reported worldwi...

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...