ESPE Abstracts

Background: Although contradictory results regarding neuromuscular functions have been reported in adults with subclinical hypothyroidism (SH), there is no study evaluating neuromuscular functions in children with SH.Objective and hypotheses: To assess neuromuscular functions using nerve conduction studies in children with SH.Method: Twenty-six children (5–18 years) with SH were enrolled in the study. Neuromuscular functions w...

Background: In blood, leptin is suggested to circulate both in the free form as well as bound to soluble leptin receptor (sLR) and possibly also to other as yet unidentified binding protein. However, the role of the sLR in the regulation of the physiological function of leptin is until now unclear.Objective and hypotheses: We aimed to investigate the relation of serum leptin and sLR levels with metabolic and anthropometric parameters in obese and healthy...

Background: Hypopituitarism, which is a heterogeneous disorder with diverse underlying etiologies, has been increasingly recognized following traumatic brain injury.Objective and hypotheses: In some patients, central fever associated with GH deficiency have been rarely reported. In this case report we presented a case with central fever associated with GH deficiency.Method: A 7-year-old boy, who was involved in a traffic accident, ...

Background: Irisin is a newly discovered myokine which regulates energy metabolism and obesity (type 2 diabetes pathogenesis). However, results of the clinical studies investigating the relation of irisin with metabolic and anthropometric parameters remain controversial, and studies in obese children are limited.Objective and hypotheses: We aimed to investigate the relation of serum irisin level with metabolic and anthropometric parameters in obese child...

Introduction: Steroidogenic factor-1 (SF1/NR5A1) is a nuclear receptor, which regulates genes that have functions in the development of adrenal glands and gonads, reproduction, and other metabolic functions.Case presentation: A 20-day-old infant was admitted due to ambiguous genitalia. Physical examination revealed a 2×1 cm phallus, bifid scrotum, and hypospadias. Both gonads were palpable in the inguinal canal. Serum levels of adrenal androgens (17...

Background: MODY is an autosomal dominant inherited type of diabetes with significant genetic heterogeneity. To date, there are mutations in more than ten different genes that result in the MODY phenotype and new mutations causing MODY are still being found.Objective and hypotheses: In this study, we aimed to perform a molecular analysis of pediatric MODY patients by next-generation sequencing which enables the simultaneous analysis of multiple genes in ...

Aim: Although genetic factors are primarily responsible for the etiology of puberty, nutrition and environmental factors are also known to be effective. Obesity is associated with various metabolic complications and affects many aspects of pubertal development such as changes in pubertal hormones and onset of puberty. However, the relationships between these factors are still unclear. It has been reported that overweight and obese children generally have advan...

Background: Prevalence of obesity has been rising throughout the world. Dyslipidemia, hypertension, insulin resistance, and type 2 diabetes mellitus (DMT2) (metabolic syndrome) are frequently observed serious complications of obesity. The primary approach in the treatment of metabolic syndrome is improving insulin resistance. Metformin is considered as an option for treatment in children with insulin resistance. During the last decade, numerous studies have been published demo...

Background: Klinefelter’s syndrome (KS) is the most prevalent chromosomal abnormality and clinically characterized by oligo-azoospermia, hypergonadotropic hypogonadism, gynecomastia and infertility in adults. Genital malformations in KS have rarely been reported.Objective and hypotheses: To investigate the etiology of penoscrotal hypospadias in a 14-month-old boy.Method: The patient was born from a healthy 23-year-old mother a...

Background: Hashimoto thyroiditis (HT) is part of the spectrum of autoimmune thyroid diseases and is characterized by the destruction of thyroid cells by various cell- and antibody-mediated immune processes.Objective and hypotheses: The aim of this study was to evaluate clinical and laboratory findings and determine the prevalence of celiac disease (CD) in children with HT.Method: A total of 80 patients with positive anti-thyroid a...