ESPE Abstracts

Background: Children with biallelic GHRHR gene pathogenic variants share a phenotype of growth failure starting in infancy and resulting in a proportionate short stature and bone age delay due to a complete isolated growth hormone (GH) deficiency. The genotype ranges from rare promotor mutations to the more frequent splicing mutations, some genotypes being specific to certain geographic areas. Diagnosis is mainly made around the age of 7 years and more often i...

Background: The timing of puberty is influenced by different factors, one of which is body composition. The aim of the current study was to investigate if anthropometric indicators of body composition, body mass index(BMI), waist circumference(WC), subscapular skinfold(SSF) and body fat percentage(BF%) were differentially associated with occurrence of breast development, pubic hair and menarche in Norwegian girls.Methods:</strong...

Keywords: Endocrine, Non-cystic fibrosis bronchiectasis, Interstitial Lung Disease (ILD)Introduction: Recent evidence shows that there is association between different endocrinal disorders and the pathogenesis of chronic lung diseases. These disorders have an impact on quality of life and management of these diseases.Aim of work: Assess the correlation between two chronic lung dise...

Background: Long-term outcome studies on bilateral testicular regression (BTR) are currently lacking, hampering counseling of patients and parents. Although a vascular origin was initially reported, recent studies revealed a genetic origin in a subset of patients (i.e. DHX37 gene variants). How this relates to patient outcomes remains unclear.Methods: Thirty-five patients with BTR were recruited in eight Belgian centers ...

Introduct&idot;on: Thyroid cancers are rare malignancies in childhood and their incidence is between 1.5-3% among all childhood cancers. Papillary thyroid cancer (PTC) constitutes more than 90% of childhood thyroid cancers. Risk factors for thyroid cancer include; There are iodine deficiency, radiation exposure, radiotherapy to the head and neck region, and genetic predisposition. We will present an 8-year-old case who presented with a complaint of neck swelli...

Background: Pituitary apoplexy (PA) is a rare clinical emergency in pediatric population. In patients with apoplexy-like symptoms, clinical and imaging features of PA, caused by hemorrhage in a pre-existing macroadenoma, are sometimes difficult to distinguish from Rathke cleft cyst (RCC).Case presentation: A 14.5-year-old boy, with an uneventful past medical history except for mild COVID-19 infection six months earlier, ...

Introduction: Vitamin D (VitD) is a prohormone that is synthesized in the skin after sun exposure. Mandatory lockdown during the COVID-19 Pandemic may have altered the sun exposure time of children.Aim: to evaluate vitD levels in a sample of children and adolescents, and compare between pre-pandemic and pandemic periods.Methoths Children and adolescents, from a Portuguese tertiary ...

Science was formerly an integral part of philosophy, but these two broad disciplines have gradually grown apart and are now typically viewed as completely different endeavors. In this talk, I will argue in favor of a renaissance in the integration of science and philosophy. I will argue first that philosophy can fruitfully contribute to science. I will take the example of stem cells in various contexts (homeostasis, regeneration and regenerative medicine, cancer) to illustrate...

The arterial switch operation (ASO) represents a remarkable success in the treatment of cyanotic congenital heart disease, with survival rates approaching 100%. The effect of infantile deep hypothermic circulatory arrest and hypoxia on post-operative linear growth is not studied. Growth data were recorded and analyzed in 12 infants with d-TGA who underwent switch operation (anatomical correction) in the early neonatal period for 18 months.Results...

Type 1 diabetes mellitus (TIDM) is a very familiar chronic disease among pediatric endocrinologists. It is known that chronic diseases can affect their growth velocity and final height. The aim of the study is to determine how TIDM affects children's growth velocity during the childhood period.Material-Method: This cohort study used data from patients with TIDM participating in our clinic for the last 13 years. The patient had other...