ESPE Abstracts

Background: Juvenile Paget’s disease is a rare autosomal recessive osteopathy. Patients presenting in infancy develop severe bone deformities and may never walk. Bisphosphonate therapy is used to decrease bone turnover and it has generally good responses in milder forms of the disease. However there is no long-term experience of bisphosphonates in severe infantile forms.Case report: A 9 month-old boy was referred to our clinic for bone deformities. ...

Introduction: Obesity may increase the risk of cardiovascular disease (CVD) in patients with type 1 diabetes (T1DM). Risk of CVD in girls with T1DM is suggested to be higher than boys, however data pertaining to risk of CVD in boys are limited. The aim of this study is to determine the prevalence of obesity and risk factors of CVD in adolescents with T1DM as well as the impact of gender on these parameters.Methods: This ...

Background: Homozygotes for the single nucleotide polymorphisms (SNPs) rs242941 and rs1876828 of the corticotrophin-releasing hormone receptor 1 (CRHR1) gene were previously associated with lower stimulated and basal cortisol levels respectively in asthmatic children on inhaled corticosteroids. Heterozygotes for rs41423247 of the glucocorticoid receptor (NR3C1) gene were found to have higher basal cortisol levels.Objectives</stro...

Introduction: Differenciated thyroid cancer (DTC) is a rare disease in children and adolescents, it concerns approximatively 1.4% of all pediatric malignancies. Papillary thyroid carcinoma (PTC) is the most common subtype of DTC in pediatric as well as in adult with necessity of radio iodine therapy after surgery.Aim: The aim of our study is to evaluate follow up after iodine therapy in childhood patients treated for...

Background: Deficiency of 11β-hydroxylase is the second most frequent type of congenital adrenal hyperplasia and more common in Turkey than other populations.Objective and hypotheses: The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in Turkish population.Method: 17 patients from 13 families are included in this study. Diagnosis was based on virilisation and high levels of 11-deoxycortisol. 15 case...

Objective: Spexin is a novel peptide implicated in food intake and satiety. Spexin levels are reduced in obese patients.Aim: To evaluate the associations of metabolic syndrome (metS) antecedents with serum spexin levels in obese adolescents.Setting: A university- based tertiary care centre.Patients and methods: Eighty consecutive obese adolescents aged 10-18 y and 80 healthy ...

Introduction: Global variations in epidemiology of type 1 diabetes (T1D) exist worldwide. This study is designed to determine the demographic and clinical characteristics of T1D in the past three decades, and to analyze changing trends in epidemiology over the past 50 years.Methods: Epidemiological and clinical characteristics of 925 patients with T1D were analyzed in three decades between 1991 and 2019. In addition, pre...

Background: Achondroplasia (ACH) is the most common skeletal dysplasia with an incidence of 1/20,000. Acanthosis nigricans (AN) is commonly seen in conditions associated with reduced insulin sensitivity. AN has been reported in association with skeletal dysplasias due to activating mutations in FGFR3, including ACH.Objective: Our aim was to evaluate insulin sensitivity and glucose metabolism in patients with ACH carrying...

Background: Genetic factors play an important key role in regulating the timing of puberty. The premature activation of pulsatile release of gonadotropin-releasing hormone(GnRH) before 8 and 9 years of age in girls and boys causes central precocious puberty(CPP). Pathogenic variants in DLK1 are associated with isolated familial CPP. Here, we report three siblings with a diagnosis of CPP with novel variant in DLK1.Case Report:</st...

In children, autoimmune thyroiditis is often diagnosed with signs and symptoms such as goiter, short stature, and constipation. Delayed diagnosis of hypothyroidism may result in atypical signs and symptoms at presentation, depending on the severity of hypothyroidism. Von Willebrand disease (vWD) is the most common bleeding disorder caused by the quantitative or qualitative deficiency of von Willebrand factor (vWF). Acquired vWD (avWD) is a disorder characterized by low levels ...