ESPE Abstracts

Background: Prevelance of type 1 Diabetes Mellitus is increasing world wide and it is associated with multiple factors.Objective and hypotheses: We aimed to evaluate the clinical and laboratory characteristics of patients with type 1 DM.Method: Clinical records of 184 patients with diabetes (0–18 years) admitted between January 2010 and January 2014 were analysed retrospectively. Age and season at admission, type of admission,...

Introduction: X-linked ichthyosis is an inherited disorder of keratinization due to steroid sulfatase deficiency. It may be part of a contiguous gene syndrome characterized by the presence of several clinical features including hypogonadism, Leri-Weill syndrome, short stature, chondrodysplasia punctata, mental retardation, epilepsy, Dandy-Walker malformation and ocular albinism. It is due to microdeletions of Xp22.3. We report observations of two siblings with syndromic x-link...

Background: Diabetes is the third commonest chronic disease of childhood. When a child or an adolescent is diagnosed with type 1 diabetes (T1D), adaptation to a new life is usually a challenge for the whole family. There are specific challenges posed by T1D on the affected children, and their families, at different developmental age groups. The correlation between HbA1c and age specific psychological challenges, to our knowledge, has not been previously explored in the Middle ...

In the history of biosynthetic GH, first prediction models on long term outcome of therapy were based on large multinational cohorts of various growth disorders and have concentrated on GH dose. In this study we analyzed the 1st year and final height (FH) data in a large single center cohort (center of expertise for rare growth disorders) and compared patient outcome and predictions in GHD and SGA. Our aim was to predict treatment outcome using simple previously suggested para...

Background: Advances in the treatment of childhood and adolescence cancer treatment have led to significant increase in survival rate. Current 5-survival rate of childhood cancer is nearly 80%. Hematopoietic stem cell transplant (HSCT) is treatment of choice in many clinical conditions including malignant and non-malignant hematological diseases, solid tumors and immunodeficiency diseases. Children receiving HSCT are prepared with different pre-transplant cond...

Introduction: Mutations in Insulin Receptor (INSR) is usually associated with insulin resistance and hyperglycemia. Homozygous or compound heterozygous mutations in INSR are usually linked with Rabson-Mendenhall or Donohue syndromes whilst heterozygous INSR mutations are associated with type A insulin resistance. Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycemia (HH) have been de...

Background: The leptin-melanocortin pathway is pivotal in appetite and energy homeostasis. Pathogenic variants in genes involved in this pathway lead to severe early-onset monogenic obesity (MO). The MC4R gene plays a central role in the leptin-melanocortin, and variants predominantly heterozygous in this gene, are the most common cause of MO. We identified a novel heterozygous variant c.802T>C p.Tyr268His in the MC4R gene in two unrelated patients with mor...

Introduction: Because of the associations and links between abnormal placental weight and both fetal and maternal disorders, it is important to have the national normal standard for placental weight as a normality reference.Aims: To find out the national placental weight standards for babies born between 37th and 43rd weeks of gestation in all groups of males and females babies born AGA, SGA, and LGA.<p class="abstex...

Background: Type1 diabetes mellitus is increasing worldwide in childhood. Education is an essential part of the package care at diagnosis. It adresses children with newly diagnosed type 1 diabetes and their families and is made by young doctors and paramedical staff (nurses and nutritionnists).Objective: to assess the knowledge of the medical and paramedical staff concerning the global management of type 1 diabetes in ch...

Annotation: Pandemics of coronoviral infection continues affecting the wold community, and with the comprehension of its pathological physiology an interest in endocrine effects ofSARS-CoV-2 grows too. It was determined, that the main target organs affected by SARS-CoV-2 were lungs and immune system, while it is still not clear if SARS-CoV-2 has any impact on the thyroid function. In patients infected with SARS-CoV, coronovirus relevant to SARS-CoV-2, damage o...