ESPE Abstracts

Introduction: Body mass index (BMI) and waist circumference (WC) are the main anthropometric measures of obesity. However, their inability to take into account body fat distribution raises queries for their predictive value of insulin resistance (IR) in youth.Aim: The aim of this study is to compare BMI and WC with latest anthropometric indices in the assessment of IR in a paediatric Greek population with overweight and ...

Introduction: Characteristic features in patients with a duplication at 5q35.2q35.3 encompassing NSD1 are short stature, microcephaly, mild developmental delay, behavioural problems, digital anomalies and defects of internal organs. The above-mentioned features are reversed to Sotos syndrome phenotype, which is associated with a microdeletion in the same chromosomal region. In the literature, 41 patients were reported so far.Case...

Introduction: Characteristics of the Turner syndrome (TS) include congenital gonadal dysgenesis resulting in disturbed sexual maturation. Only 20 % of patients with TS menstruate spontaneously. In most cases pharmacological puberty induction is required to maintain female secondary sex characteristics and menarche. Preferred age of start of estrogen replacement is between 11 and 12 years with gradual increase of dose during 2–3 years.<p class="abstex...

Background: An increased prevalence of extra-thyroidal congenital malformations in infants with congenital hypothyroidism (CH) is well established. However, accurate estimation of prevalence figures requires careful distinction between permanent and transient CH. Moreover, the mechanisms resulting in congenital malformations are not well understood.Study aim: To estimate the prevalence of cardiac, extra-cardiac and/or sy...

Keywords: Congenital Adrenal Hyperplasia, Parent’s experience, Focus Group DiscussionBackground: Congenital Adrenal Hyperplasia (CAH) leads to many unseen social burdens for parents, including ambiguous genitalia (in girls), lifelong use of medication, including stress dosing, social and psychological pressure, and stigmatization. This study aimed to investigate various lived experiences of parents caring for their...

Pathologically elevated serum levels of fibroblast growth factor-23 (FGF23), a bone-secreted hormone that regulates phosphorus homeostasis, result in renal phosphate wasting leading to rickets or osteomalacia. Patterns leading to FGF23 excess are still unknown. Recently, FGF23 elevated rickets has been associated with epidermal nevus syndrome, designating the cutaneous skeletal hypophosphatemia syndrome (CSHS). The clinical picture is not completely defined as, to date, only a...

Introduction:Subclinical hypothyroidism (SH) is defined in children by a moderate rise in TSH (TSH: 4.5-10 mU/l) compared to a normal level of free T4. However, the clinical consequences remain a subject of controversy, hence the need to take a position on the relevance of treating it.Objective: Description of the clinical, biological and evolutionary characteristics of SH in children.Patie...

Introduction: CFTR-modulating therapy aims to restore CFTR function. It improves lung function and quality of life in CF patients however, its effects on glucose metabolism are not yet well defined.Methodology: Retrospective and longitudinal study.Inclusion criteria: patients with CF genetic diagnosis ≥10 years old on modulator therapy (ivacaftor + lumacaftor or ivacaftor + teza...

Background: Vitamin D deficiency/insufficiency seems to occur frequently in children and teenagers but it is a matter of debate if limits (<20 ng/ml; <30 ng/ml) are correct. Besides its effect in bone metabolism Vit-D is also supposed to have a positive influence in diabetes mellitus 1 (DM1).Objective and hypotheses: To study 25OHD and iPTH values in a group of patients (pts) (n=57) with DM1 without Vit-D substitution (2011), with 1000 I...

Objective: The aim of this study was to evaluate demographic characteristics; clinical, laboratory, imaging features; and response to treatment of boys who were followed up and treated with the diagnosis of central precocious puberty (CPP) in Turkiye.Materials and Methods: The study was planned as a multicenter, retrospective study. Cases with a diagnosis of CPP, whose follow-up data were available were included. Patient...