ESPE Abstracts

Introduction: Hypothyroidism is the commonest endocrine disorder which associates with Trisomy 21. It affects the physical and intellectual development of children. It can be either congenital or acquired.Case report: 9 years old boy diagnosed patient with Trisomy 21; presented with the complaint of bowel not opened for 3 weeks and grossly distended abdomen. On the day of admission, he had low-grade fever and settled wit...

Objectives: It is suggested that interaction of dyslipidemia related polymorphisms with obesity is one of the possible mechanisms of expression of cardiometabolic risk factors in obese children. In this study, in order to classify high risk obese children and consequently prioritize health care resources for better management of childhood obesity,we investigated the outcome of GCKR(rs780094), GCKR(rs1260333), MLXIPL(rs3812316) and FADS(<a href="http://www.ncbi...

Background: Conventionally, 46 XX infants with congenital adrenal hyperplasia (CAH) were reared as females, even if considerably virilised at birth. However, lately there has been some debate on this stance, and male gender of rearing is also being considered.Objective and hypotheses: We report on a 9 year old genetically female child (N) with salt wasting CAH reared as a male, with precocious female puberty, currently suppressed with GnRH analogs, and d...

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...

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...

Introduction: Central precocious puberty (CPP) is due to premature activation of the hypothalamic-pituitary-gonadal axis. Mutations in the imprinted gene MKRN3 are the most common monogenic form of CPP. Recently, attention was directed to DLK1, another imprinted gene. Defects in this gene resulted to be a rare cause of CPP in girls and adult women with precocious menarche, obesity and metabolic derangement. We aimed to investigate a cohort of female and male p...

Background: The primary goal of GH treatment in GHD children and adolescents is to normalize height, in order to attain an adult height within the target height (TH) range.Aim: to investigate height improvement in GHD paediatric patients treated with GH in our Country.Subjects: 737 patients with isolated GHD (39.5% females) from 13 tertiary Centres for Paediatric Endocrine Care...

Background: Infants with severe insulin resistance syndrome show failure to thrive.Objective and hypotheses: Effect of rhIGF1 treatment on growth in a patient with severe insulin resistance syndrome.Method: Case report.Results: The patient is a 4-years-old Caucasian girl of unrelated healthy parents. She was born after a 40 weeks gestation as a small for gestational age infant with a birth weight of 1970 g. A...

Temple syndrome is due to loss of methylation in the imprinted locus 14q32 and is characterised by low birth weight, hypotonia, short stature, early puberty. Adult height is approx -2.0SD. Other features are small hands and feet, premature birth, feeding difficulties, delayed milestones, mild learning difficulty, variable obesity. We report monozygotic twins diagnosed with Temple syndrome aged 13 yr. Twin 1 received GH for SGA and short stature from age 9.5yrs when his height ...

Introduction: McCune-Albright Syndrome (MAS) is a rare congenital disorder caused by post-zygotic activating mutations in GNAS gene. Due to the mosaic pattern of this disease, mutation abundance is frequently low in several tissues, including blood cells. The emergence of next-generation sequencing (NGS) methodologies has allowed the analysis of millions of DNA fragments simultaneously and independently, enabling detection of low mutation abundance. Aim: To es...