hrp0086p2-p327 | Diabetes P2 | ESPE2016

Benefits of Switching Insulin from Twice Daily to Multiple Daily Injections on Glycaemic Control in Children with Type 1 Diabetes Mellitus in Sri Lanka at the Lady Ridgeway Hospital, Sri Lanka

Atapattu Navoda , Vithanage Vasundara , De Silva Shamya

Introduction: Intensive insulin therapy with multiple daily injections (MDI) gives better glycaemic control than conventional biphasic insulin regimen in children with type 1 Diabetes mellitus. Though MDI regimen is widely practiced in other countries, this is not so in Sri Lanka.Objective: Effect on glycaemic control and BMI of children with TIDM after the change of insulin regimen to MDI from twice daily insulin regime. Methodology</st...

hrp0082p2-d3-615 | Turner Syndrome | ESPE2014

Aortic Dimensions and Cardiac Anomalies in a Cohort of Children with Turner Syndrome

Ginige Nimasari , de Silva Shamya , Perera Shehan

Background: The increased risk for congenital heart malformations in Turner syndrome (TS) is well established with a prevalence ranging from 17 to 45%. The associated cardiac anomalies and normal parameters for aortic dimensions in TS have not been previously reported from Sri Lanka.Objective and hypotheses: To document parameters for aortic dimensions and describe structural and functional cardiac abnormalities in a cohort of children with TS.<p cla...

hrp0094p2-482 | Thyroid | ESPE2021

Iodine status and autoimmune thyroiditis in children; a case-control study in Sri Lanka

Hashim Raihana , Mahesh Buddika , Atapattu Navoda , de Silva Shamya

Conclusions: Iodine nutrition status in children in both groups was optimal, based on urinary iodine concentration. Furthermore, there was no significant association between iodine intake and autoimmune thyroiditis....

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...

hrp0089p2-p204 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Assessment of the Stretched Penile Length in Sri Lankan Newborns

Kollurage Dona Udeni Anuruddhika , Atapattu Navoda , Jayamanna Deepal , Gunasiri Janaka Ravinath , Silva Shamya De

Background: Evaluation of the external genitalia is very important in the routine neonatal examination, since abnormalities of the genitalia give clues to underlying endocrine disorders or serious structural malformations. This is the first report regarding the stretched penile length (SPL) of newborns from Sri Lanka.Objective and hypotheses: The objectives of the study were to document the SPL of healthy term neonates born following an uncomplicated del...

hrp0084p2-278 | Diabetes | ESPE2015

Neonatal Diabetes – Experience from a Single Centre in Sri Lanka

Atapattu Navoda , Vithanage Vasundara , de Silva Kirikankanange Shamya Harshini , de Silva Daham Haresha , Jayathilaka Mala Mangalika , Hattersley Andrew T , Ellard Sian , Flanagan Sarah E , Houghton J A L , Hussain Khalid

Background: Neonatal diabetes (NDM) is a rare form of monogenic diabetes which usually presents before 6 months of age. Both transient and permanent NDM have been described.Objective: To report the molecular genetics and clinical characteristics of patients with NDM from a single centre in Sri Lanka.Method: Retrospective analysis of clinical and molecular genetic data from patients referred to Lady Ridgeway Hospital Endocrinology u...

hrp0086p1-p909 | Thyroid P1 | ESPE2016

Identification of a “Cryptic” De Novo Deletion in NKX2.1 in the Brain-Lung-Thyroid Syndrome using Genomic SNP Arrays

Villafuerte Beatriz , de Benito Daniel Natera , Lacamara Nerea , Garcia Marta , Lumbreras Cesar , de Randamie Rajdee , Nevado Julian , Moreno Jose Carlos

Background: Genetic defects in NKX2.1 (chromosome 14q13) are associated with hypothyroidism, choreo-athetotic movements and respiratory distress, known as the “Brain-Lung-Thyroid syndrome”.Objective and hypotheses: To identify the genetic basis of a disorder compatible with the “NKX2.1 syndrome” and extra features outside the typical triad.Patients and methods: 10-year old girl with congenital ...

hrp0092p1-291 | Thyroid (1) | ESPE2019

An Incidental Finding of Thyroid Hormone Resistance Due to a De Novo Mutation in the THRB Gene

Averbuch Noa Shefer , França Monica , Lazar Liora , Tenenbaum Ariel , Phillip Moshe , de Vries Liat

Background: Thyroid hormone resistance (THR) is a rare genetic disorder that may be caused by thyroid hormone (TH) cell transporter defects or metabolism defects, but most cases are caused by an inherited mutation in the TH receptor beta (THRB) gene. The reduced responsiveness of target tissues to TH is characterized by elevated TH and a normal or elevated thyroid-stimulating hormone (TSH) level. Differentiating between THR and TSH-producing pituitary...

hrp0092p1-229 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

"Endocrine Evaluation of 29 Cornelia de Lange Syndrome Patients (CdLS) Patients"

Matamala Angela Marina Ascaso , de Ávila Montoya José Mario Romero , Cereza Maria Teresa Llorente , Lidón Laura Trujillano , Fuentes Feliciano Ramos , Juste Juan Pie , Lozano Gloria Bueno

Background: Cornelia de Lange (CdLS) syndrome (OMIM #122470) is a complex disease, characterized by distinctive facial features, failure to thrive, microcephaly, intrauterine growth retardation and anomalies in multiple organ systems. The complexity and severity of the endocrine commitment is variable. NIPBL, SMC1A, SMC3, RAD21 and HDAC8 genes, all involved in the cohesin pathway, have been identified to cause CdLS. There are few published studies on the endoc...

hrp0094p2-329 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Cornelia de Lange syndrome: a case report

KARROU Marouan , Derbel Salma , Assarrar Imane , Messaoudi Najoua , Benouda Siham , Rouf Siham , Latrech Hanane ,

Introduction: CORNELIA DE LANGE Syndrome (CdLS) is a rare syndrome, first described in 1933 by the Dutch pediatrician CORNELIA DE LANGE. This syndrome represents a multi-systemic disorder with physical, cognitive and behavioral characteristics. It is evident in the typical or classical form (craniofacial appearance, short stature and limbs deformities). However, not all individuals with CdLS present with the classic phenotype, as the clinical presentation can ...