hrp0097p1-220 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Evaluation of Bone mineral density and Nutritional status in children with Spastic Cerebral Palsy. Implications for Fracture risk and Quality of Life.

Muzna Arif Dr , Mohammad Raza Dr , Fozia Memon Dr , Shahnaz Ibrahim Dr , Khadija Nuzhat Humayun Dr

Introduction Up to 75% of Cerebral palsy(CP) children are of spastic diplegic & quadriplegic types with severe malnutrition found in 35% of them which is multifactorial. Motor impairment is strongly corelated with Gross Motor Function Classification(GMFCS) level 3 and above, malnutrition, and low bone mineral density(BMD) assessed via dual energy x-ray absorptiometry(DXA) scan. These children have low age adjusted BMD z scores <-2SD subsequently increas...

hrp0095p1-65 | Fat, Metabolism and Obesity | ESPE2022

Congenital Leptin Receptor deficiency: An Indian family with novel Homozygous LEPR gene mutation (LEPR):c.1752G>A (P.Lys584=) presenting with severe early onset obesity

Patil Prashant , Sakina Rajgara Dr , Vidya Thakur Dr

Introduction: Congenital deficiency of the leptin receptor is an extremely rare cause of early-onset monogenic obesity with rapid weight gain and compulsive overeating. LEPR mutations is responsible for extreme form of obesity associated with other endocrine abnormalities and respiratory tract infection. Till date, approximately 50 families have been reported to have mutations in the leptin receptor gene.Case: 9-year-old...

hrp0092p2-88 | Diabetes and Insulin | ESPE2019

A Qualitative Study Investigating the Experiences of Using Solution Focused Therapy in a Paediatrics Diabetes Team

Guyers Mark , Ziemba Dominka , Bray Dr Dominic , May Ng Dr Sze

Introduction: It is essential that children and young people with diabetes are supported to manage their diabetes effectively to prevent the development of early complications, by education and self-management aimed towards maintaining good glycaemic control. However, the common clinical challenge is difficultly in engaging adolescents and young people with poor glycemic control in their diabetes management.Solution Focus Therapy (SFT) h...

hrp0092p3-271 | Late Breaking Abstracts | ESPE2019

Psychosocial Wellbeing of Parents and Quality of Life of Children (Qol) with 46, XY Disorders of Sex Development (DSD) Attending The Endocrine Clinics at Lady Ridgeway Hospital (LRH) for Children

Gangoda Liyanage Dr.Dilusha , De Silva Prof. Shamya , De Silva Prof. Varuni , Atapattu Dr. Navoda , Mahesh Buddhika

Introduction: 46, XY DSD leave lifelong implications on parents and patients. Documented scientific literature on children with 46, XY DSD is scares in Sri Lanka. This study assesses the psychosocial wellbeing of parents and the quality of life in children with 46 XY DSD.Objective: To assess the psychosocial wellbeing of parents and the quality of life in children with 46, XY DSD attending the endocrine clinics at Lady R...

hrp0089p3-p045 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Idiopathic Hypoparathyroidism in a 10 Year-Old Girl with Concomitant Epilepsy, Long Q-T Syndrome (LQTS), Pericarditis and Pneumonia

Borysewicz-Sańczyk Hanna , Sawicka Beata , Kiryluk Barbara , Szumowski Piotr , Allgrove Dr. Jeremy , Bossowski Artur

Introduction: PTH is one of the principal regulatory hormones for calcium and phosphate homeostasis. Hypoparathyroidism, caused by reduced parathyroid hormone (PTH) concentration is characterised by hypocalcemia and hyperphosphataemia. Hypoparathyroidism in children can occur either as part of a genetic syndrome, autoimmune disorder, be acquired secondarily to thyroidectomy or some destructive process of the glands. If the reason for decreased PTH concentration is unknown, it ...