hrp0097p1-329 | Growth and Syndromes | ESPE2023

Long-term (9-year, 8-year and 3.5-year) follow-up of treatment with rhGH in three patients with Noonan syndrome due to PTPN11 mutation and confirmed growth hormone deficiency.

Kowalik Dorota , Stawerska Renata , Lewiński Andrzej

Introduction: Noonan syndrome (NS) is relatively common genetic disorder caused by mutations in the PTPN11 (50%), SOS1 (10-13%), and RAF1 (3-17%) genes responsible for disturbances in the activation of the RAS/MAPK signaling pathway. NS is characterized by facial dysmorphic features (90%), congenital cardiac disturbances and short stature (<3c) - the average final adult height is 162.5 cm for male and 153 cm for female. In some, but not all of the NS patien...

hrp0098p2-322 | Late Breaking | ESPE2024

Mauriac syndrome: A rare complication of Type 1 Diabetes Mellitus

Samvelyan Sona , Markosyan Renata , Hakobyan Nina

Introduction: Mauriac syndrome (MS) is a rare complication of Type 1 Diabetes Mellitus (T1D) associated with poor metabolic control. It is characterized by hepatomegaly, hypertransaminasemia, growth failure, delayed puberty. But MS also can be present without the full spectrum of characteristic features. MS is more prevalent in adolescence, although cases in children and adults have been described. Glycogenic hepatopathy is the most prominent component of this...

hrp0086p2-p514 | Fat Metabolism and Obesity P2 | ESPE2016

Prader Willi Syndrome in Brazil: 6 months Follow-up in a Reference Center

Ito Simone , Passone Caroline , Rocha Ruth , Dichtchekenian Vae , Kupperman Hilton , Damiani Durval

Background: Prader–Willi syndrome (PWS) patients have been followed in our country in different ways but without a reference center. In January 2015, we started a PWS reference center in Sao Paulo University to promote a better care for patients and families and to support them with a multidisciplinary team, including pediatric endocrinologist, dietician, nurses, neurologist specialized in sleep disorders and otorhinolaringologist.Method: Forty-two ...

hrp0084p3-596 | Adrenals | ESPE2015

Transient Pseudohypoaldosteronism as a Complication of Infected Obstructive Uropathy in Infancy, a Case Series

Da Costa Alexandra Rodrigues , Glew Simon , Fonseka Geetha , Ismail Dunia

Background: Pseudohypoaldosteronism is a rare condition of renal or systemic resistance to aldosterone, divisible into separate clinical presentations, each with a distinct physiological and genetic basis. Transient pseudohypoaldosteronism is a secondary form, characterised by reduced glomerulofiltration rate. It has been described in infants with obstructive uropathy and urinary tract infections.Method: We present five cases, presenting in infancy with ...

hrp0086p2-p542 | Fat Metabolism and Obesity P2 | ESPE2016

Obstructive Sleep Apnea Syndrome in Early Childhood: Case Report

Rachid Ludmilla , Queiroz Edjane , Cominato Louise , Rocha Ruth , Ybarra Marina , Steinmetz Leandra , Semer Beatriz , Menezes Filho Hamilton , Damiani Durval

Background: Obstructive sleep apnea syndrome (OSAS) in children is a common medical disorder, often associated with adenoid and tonsil hypertrophy. The prevalence of OSAS has been increasing due to alarming rates of obesity in childhood. This is a very concerning subject since there is a higher risk of cardiovascular outcomes in patients with elevated BMI and OSAS.Objective and hypotheses: The aim of this study is to report a hazardous case regarding chi...

hrp0094p2-218 | Fat, metabolism and obesity | ESPE2021

Impact of overweight and obesity in pediatrics. Metabolic syndrome and its components

San Martin Amaya , Vilella Leyre , Garcia Casales Zurine , Calvo Ariadne , Rocha C , Sarasua Miranda Ainhoa , Diez-Lopez Ignacio ,

The current lifestyle, with a diet increasingly removed from the Mediterranean diet, together with the habitual sedentary lifestyle, is associated with many of the so-called non-communicable diseases, such as the metabolic syndrome. Every day these pathologies are more frequent in pediatrics, so this study has tried to establish the prevalence of metabolic syndrome and its components in overweight and obese children and assess its impact. METHODS A descriptive study has been c...

hrp0095p2-298 | Thyroid | ESPE2022

Complicated Hypothyroidism in a Child with Trisomy 21

Withana Anuruddhika , De Silva Dimarsha , Liyanage Upeksha

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...

hrp0092p3-105 | Fat, Metabolism and Obesity | ESPE2019

The Interaction Between Lipids Regulatory Genes Polymorphism and Obesity on Cardiometabolic Risk Factors in Children and Adolescents

Hashemipour Mahin , Hovsepian Silva , Kelishadi Roya

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...

hrp0086p2-p77 | Adrenal P2 | ESPE2016

Management Dilemmas in a Genetically Female Child with Congenital Adrenal Hyperplasia Raised as a Male

Seneviratne Sumudu , Samarasinghe Malik , de Silva KSH

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...

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...