ESPE Abstracts

Aim: To develop a low cost formula as screening tool for identifying youths with overweight/obesity (OW/OB) at risk for impaired glucose tolerance (IGT).Methods and results: A retrospective observational study was performed in 1189 Caucasian youths with OW/OB aged 5-17 years, in whom information about family history for diabetes (FD), fasting glucose (FG), 2-hour glucose levels post-oral glucose tolerance test, alanine a...

Background: Children and adolescents with chronic disease are at risk of developing bone fragility. In particular, low bone mineral density (BMD) is increasingly recognized in pediatric patients with glucocorticoid treated rheumatic disease. The purpose of this study was to evaluate the clinical characteristics of children and adolescents with systemic lupus erythematosus (SLE), and to analyze the factors associated with a lower BMD in these patients.<p cl...

Introduction: McCune-Albright syndrome (MAS) is caused by somatic mosaic mutations in the GNAS gene. Detection of the GNAS mutations is usually difficult because of the low frequency mosaicism. Droplet digital polymerase chain reaction (ddPCR) is a new technology that enables to measure absolute quantities of target nucleic acids in a sample by counting nucleic acid molecules encapsulated in discrete water-in-oil droplet partitions.<p cla...

Aim of the study: Assessment of the incidence of ovarian functional disorders correlated with thyroid disorders appreciated clinically, functional, and echostructural in a group of diabetic female teenagers according to 25-(OH)- vitamin D serum levels.Method: A group of 31 patients with diabetes mellitus and vitamin D deficiency (mean age 16.3 ± 1.3) was studied compared to a control group (43 teenagers) with diabet...

Introduction: Barakat Syndrome (HDR Syndrome) is characterized by hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R) caused by an autosomal dominant inheritance, being mostly associated to deletions in chromosome 10p14 or mutations in GATA3 gene.Case Report: A 9 years old male was admitted at an emergency complaining of upper and lower limbs pain and contractures that progressed with periodic tetany...

Introduction: Mutations in FGFR1, which is involved in formation and migration of neurons responsible for the production of gonadotropin-releasing hormones, may either cause isolated hypogonadotropic hypogonadism (HH) or Kallmann syndrome (KS). In addition, FGFR1mutations were reported in 2.7% of the cases with multiple pituitary hormone deficiency.Case: A 16-year-old male was referred to our clinic...

Introduction: Aromatase deficiency is a rare cause of autosomal recessive 46, XX disorders of sex development (DSD) due to CYP19A1 gene mutations. The affected patients cannot have a normal estrogen biosynthesis. It is characterized by low serum estrogen, increased gonadotropins, and ovarian cysts. Herein, we report a new case with aromatase deficiency.Case Report: A 1-month-old girl was referred due to cliterom...

Leptin is a type I cytokine and belongs to the long-chain helical cytokine subfamily just as GH, IL-6 and G-CSF. Leptin is produced mainly in white adipose tissue and thereby reflects body energy stores. Leptin serum concentrations are high in obese and low in underweight individuals or in those with low body fat e.g. in athletes and in patients with lipodystrophy. The leptin/leptin receptor system is crucial for the regulation of body weight. Rare homozygous mutations in the ...

Introduction: Nephrotic syndrome (NS) is one of the most frequent glomerular pathological conditions seen in children. The International Study of Kidney Disease in Childhood (ISKDC) reported that 84.5% of children with idiopathic nephrotic syndrome (INS) had minimal-change nephrotic syndrome (MCNS). Complications of INS may arise as a result of the disease itself or secondary to treatment. The chief complications of NS are infection, followed by thromboembolic events. Other di...

The weight of birth affects the weight status and fat distribution in the later period of life. It is suggested that both low and high birth weight pose a risk for cardiometabolic diseases. In this study, the effects of birth weight on body fat mass and body fat distribution parameters during childhood and adolescence period were evaluated.Method: In this cross-sectional study, 4581 children ages between 6-17 years at primary and secon...