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....

hrp0092p2-196 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Klinefelter Syndrome Associated with Short Stature Due to Iatrogenic Cushing

Machado Pinto Renata , Barbosa Julio , Mendes Arthur , Steinmetz Lucas , Cunha Damiana , Divino Da Cruz Aparecido

Introduction: Klinefelter syndrome (KS) is a form of aneuploidy resulting from 2 or more X chromosomes in a male. The most common karyotype is 47, XXY. KS affects physical and intellectual development to varying degrees, commonly causing hypo-development of secondary sexual characters and high stature.Case Report: JLV, male, 3 year 1 month age, the first child of a young non-consanguineous couple, was referred to the ped...

hrp0086p2-p588 | Perinatal Endocrinology P2 | ESPE2016

Case Report on Hyperinsulinism/hyperammonaemia Syndrome: An Easily Treatable Cause of Postprandial Hypoglycaemia

Seneviratne Sumudu , Jayatunge Tharanga , Atapattu Navoda , De Silva K. S. H. , Wickramasinghe V. P. , De Silva Harendra

Background: Hyperinsulinism/hyperammonaemia (HI/HA) syndrome is associated with postprandial hypoglycaemia and mild hyperammonemia. There is increased insulin release following protein ingestion, which is amenable to diaxozide therapy. While developmental delay and normoglycaemic seizures can also occur, hepatomegaly has not been reported. We report a child with HI/HA and hepatomegaly, mild learning difficulty and obesity, who was initially mistaken to have glycogen storage di...

hrp0094p2-184 | Fat, metabolism and obesity | ESPE2021

Assessment of DRD2 dopamine receptor gene rs6277 in pediatric obesity: a case-control study

Machado Pinto Renata , Alves Nygell S , Fortes Jakeline S , Monteiro Rubia V , Minasi Lysa B , da Cruz Aparecido Divino ,

Introduction: Obesity is a multifactorial disease resulting from an interplay between genetics and the environment. Metabolic, nutritional, psychosocial, and lifestyle factors participate, promoting various degrees of overweight or obesity. Pediatric obesity increases after infancy and is higher in early adulthood, showing a heritability of up to 85%. Genetic variants associated with BMI in children can exert their effects by affecting eating behavior, as is t...

hrp0098p1-96 | Sex Endocrinology and Gonads 1 | ESPE2024

Study of the ovarian function and the gyneco-obstetrical profile of patients carrying a pathogenic variant of the HNF1B gene

Cartault Audrey , Paret Camille , Ernoult Perrine , Garczynski Charlotte , Costa Sabrina Da , Chakhtoura Zeina , Viaud Magali , MercierMilesi Celine , Pienkowski Catherine

Introduction: HNF1B belongs to the organogenesis gene family. HNF1B is a rare autosomal disorder affecting early embryonic development of the urogenital tract, liver, pancreas and parathyroids. It is responsible for kidney damage and MODY type diabetes. It affects the female genital tract with a prevalence of uterine malformations of about 20%. To date, no study has evaluated the ovarian function or the gyneco-obstetrical profile of these patients.<p class...

hrp0082p3-d3-796 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Prevalence of Overweight and Obesity in Children and Adolescents at Public and Private Schools from Uberaba Brazil

Silva Adriana Paula , Feibelmann Taciana Carla Maia , Silva Daniela Cristina , Palhares Heloisa Marcelina Cunha , Scatena Lucia Marina , Borges Maria de Fatima

Background: In Brazil there is a nutritional transition between child malnutrition and increasing prevalence of obesity.Objective and hypotheses: The study aims to identify the prevalence of overweight and obesity in children aged 5–18 years in five private and 15 public schools from city of Uberaba Brazil.Method: Anthropometric data, inventorys physical activities and socioeconomic aspects were evaluated from 1125 individuals...

hrp0095p1-211 | Adrenals and HPA Axis | ESPE2022

Effect of maternal steroid medication prescribed during pregnancy on neonatal adrenal function

Ahmed Aneeq , Hattangadi Ibani , Gopalakrishna Nagapratheek , De Silva Shamani , Elder Charlotte , Ferguson Elspeth

Background: There is limited data supporting concerns that systemic corticosteroids, prescribed in pregnancy for maternal health reasons, can suppress the neonatal Hypothalamic-Pituitary-Adrenal (HPA) axis. Our study aimed to determine if neonates born to mothers on long-term or high dose steroids are at risk of adrenal suppression.Methodology: Neonates who underwent assessment of adrenal function over a seven-year perio...

hrp0095p2-302 | Late Breaking | ESPE2022

Pseudohypoparathyroidism- Presented with a convulsion

Withana Anuruddhika , Wickramasinghe Rohan , Kumara Milinda , De Silva Dimarsha , Liyanage Upeksha , Palliyaguruge Jagath

Introduction: In Pseudohypoparathyroidism (PHP), parathyroid glands are normal or hyperplastic and they can synthesize and secrete parathyroid (PTH) hormone. Serum immunoreactive PTH are elevated even when the patient is normocalcemic. Neither endogenous nor administered PTH raises the serum Ca or lowers the levels of P. Depending on the phenotypic and biological findings, PHP is classified into various types.Case Report:</strong...

hrp0092p2-4 | Adrenals and HPA Axis | ESPE2019

Bone Age Advancement in Prepubertal Children with Premature Adrenarche

Santos-Silva Rita , Costa Carla , Castro-Correia Cíntia , Fontoura Manuel

Introduction: Premature adrenarche (PA) is usually define as the appearance of clinical signs of androgen action before the age of 8 years in girls and 9 years in boys, associated the serum DHEAS above 40µg/dl.Aims: 1) To characterize a population of prepubertal children with PA regarding birth weight, anthropometry, growth velocity, height difference, bone age, IGF1 and DHEAS. 2) To compare IgF1, bone age, growth v...

hrp0092p2-14 | Adrenals and HPA Axis | ESPE2019

Differences Between Normal-bmi Girls with Premature Adrenarche and Overweight or Obese Girls with Premature Adrenarche

Santos-Silva Rita , Costa Carla , Castro-Correia Cíntia , Fontoura Manuel

Introduction: There seems to be an undoubting, but still puzzling, relationship between obesity and premature adrenarche (PA).Aim: To characterize a population of prepubertal girls with PA and to compare girls with a normal body mass index (BMI) with girls who are overweight or obese, in what regards gestational age and birth weight, age at the referral, clinical signs, anthropometry, bone age and hormone profile.<p ...