ESPE Abstracts

Introduction: High doses of biotin are reported to cause incorrect results in various immunoassays in some patients. However, there is no systematic study regarding biotin interference in childhood.Aim: To assess thyroid function with different methods in subjects with biotinidase deficiency, to determine the factors causing interference, and to investigate the efficiency of the methods for overcoming interference.Method: The study...

Childhood obesity (CO) is an important risk factor for the development of many chronic metabolic diseases in adulthood. Sleep patterns are known to affect leptin and ghrelin levels in the body. Recent studies using Functional Magnetic Resonance Imaging (fMRI) have shown that insufficient sleep time leads to unhealthy eating behaviors in the brain. The aim of this study is to investigate the association between sleep time in childhood and obesity. Consistent with this associati...

Studies show that vitamin D deficiency can have negative effects on glucose homeostasis, although the mechanism for this is still unclear. The possible mechanism may be related to the presence of vitamin D receptors and their metabolizing enzymes in insulin-sensitive cell types, such as pancreatic cells and adipocytes. The aim of this study is to compare how serum 25- OH D level and HOMA-IR index are related to acanthosis nigricans (AN) and which of them is a better marker for...

In children and adolescents, vitamin D deficiency negatively affects muscle physiology, exposing them to increased muscle damage and pain, stress fractures, and tendon structures. In addition, free radicals released when the body is exposed to oxidative stress after exercise can cause DNA damage. Vitamin D plays an important role in removing these radicals. The purpose of this study is to investigate the relationship between physical activity and 25- OH vitamin D in obese chil...

Childhood obesity (CO) is an important risk factor for the development of many chronic metabolic diseases in adulthood. Understanding the mechanisms that promote childhood obesity and eliminating these causes in childhood are critical for later life. One of the major complications of obesity is insulin resistance. The purpose of this study is to investigate the relationship between sunlight exposure and insulin resistance in childhood. Specifically, it examines how the duratio...

Spondyloocular syndrome (OMIM 605822) is an autosomal recessive disorder characterized by skeletal complaints (osteoporosis, platyspondyly, multiple bone fractures), hearing loss and ocular symptoms (cataracts, retinal detachment). XYLT2 gene (OMIM 608125) mutation encoding xylosyltransferase II enzyme which is responsible from the first step of proteoglycan assembly is responsible for the pathogenesis. Phenotypical variability is associated with varying genetic expre...

Introduction: Costello syndrome is a rare RASopathy that is associated with such characteristics as prenatal overgrowth, postnatal growth retardation, mental-motor retardation, coarse face appearance, loose skin on the neck, hands and feet, cardiovascular abnormalities, deep palmar and plantar lines and a predisposition to various types of cancer. Several endocrine disorders, including growth hormone deficiency, adrenal failure, glucose intolerance, hyperprolactinemia and hypo...

Background: GH treatment may cause insulin resistance, which is associated with metabolic syndrome and co-morbidities.Objective and hypotheses: The aim of our study was to evaluate GH deficiency (GHD) patients on GH treatment for hyperlipidemia, insulin resistance and carotid intima media thickness (CIMT) and left ventricular global longitudinal strain (GLS) and assess cardiovascular tissue level effects of insulin sensitivity.Meth...

Beckwith-Wiedemann syndrome (BWS) is a congenital tumor-predisposition syndrome of which around 70% develops because of the methylation defects in the imprinted genes at chromosome 11p15.5. KCNQ1OT1 hypomethylation is the most common underlying genetic aberration in sporadic the BWS, accounting for 50% of the sporadic cases but confers the least tumor risk. We present a 5 month-old girl who presented with an excessive weight gain, cushingoid face, arrested gro...

Objective: Several studies have shown that sleep plays an important role as a modulator of metabolic homeostasis. Indeed, hundreds of studies have been published to examine the relationship between insufficient sleep, late bedtime and obesity. We have studied bedtime snack as another parameter. We suggested that it may be a risk factor for obesity. When we looked at the literature, we could not find any study about bedtime snack in childhood, but there are a few studies in adu...