ESPE Abstracts

Background and hypotheses: Urinary C-peptide creatinine ratio (UCPCR) is a new, non-invasive, economical test recommended in differential diagnoses of maturity-onset diabetes of the young (MODY). There are a few studies on this topic. UCPCR values were determined as >0.2 and >0.7 nmol/mmol with a high specificity and sensitivity in differential diagnosis in the previous two studies, the values were evaluated in only three MODY types (HNF1A/HNF4A/GCK-MODY). We investiga...

Background and aims: The interpretation of serum 17α-hydroxyprogesterone (17OHP) results is difficult as age-related pediatric reference intervals are scant. The aim of this study is to determine the reference intervals for serum 17OHP according to sex and age groups in newborns. We also aimed to establish reference intervals for right and left adrenal gland sizes, and to evaluate the relation with adrenal size and serum 17OHP concentrations in newborns.<p class="abst...

Objective: In the present study, it was aimed to investigate the concomitance of additional cardiac problems, mainly mitral valve prolapse, in adolescents and pediatric patients with Hashimoto’s thyroiditis, by screening autoimmune markers.Methods: Euthyroid 57 patients, who applied to the Pediatric Endocrinology clinic at our institution with marked symptoms of hypothyroidism at the time of diagnosis, and were diagnosed and treated for Hashimoto&#1...

Background: An optimal vitamin D status is important for the growth and development of bones in children and adolescents. The prevalence of vitamin D deficiency is still high, even in low-latitude and industrialized countries, and vitamin D deficiency in childhood is reemerging as major public health issue.Objectives: To determine the frequencies of 25-hydroxyvitamin D (25(OH)D) deficiency and insufficiency in children and adolescents.<p class="abste...

Objective: As obesity rates rise among children, non-alcholic fatty liver disease (NAFLD) is becoming more prevalent. Although liver biopsy is considered the gold standard for diagnosing NAFLD, it is an invasive procedure and not practical for screening. Asprosin, a recently unveiled adipokine, is released in response to fasting. In this study, we aim ed to investigate the diagnostic value of asprosin for NAFLD in obese patients....

Introduction: Maturity-onset diabetes of the youth (MODY), is a genetically and clinically heterogeneous group of diseases in the pancreatic β–cell that impair insulin secreation. It mostly caused by heterozygous mutations in one of 11 different genes associated with β–cell function. The aim of this study is detection of the distribution of both known and novel point mutations of these genes in Turkish population.Pati...

Objective: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in children. Early identification and management is crucial to prevent irreversible brain damage. CHI has a heterogeneous clinical presentation, histology and molecular biology. We aim to discuss the clinical characteristics and genotype–phenotype correlations of Turkish CHI patients from a single centre.Design and methods: A total of 15 patients with CHI were recr...

Objective: Subclinical hypothyroidism (SH) prevalence in the paediatric population is reported between 1.7 and 9.5%. Results of the adult studies on SH showed that long term SH had negative effects on atherosclerosis, dyslipidaemia, insulin resistance and cognitive functions. The decision about treatment of SH in paediatric patients is still a matter of debate. None of the consensus statements published about the management of SH addressed the issue of SH in the paediatric pop...

Background: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires accurate diagnosis and urgent treatment. Congenital adrenal hyperplasia is the most common cause of PAI in children. Non-CAH causes of PAI are relatively rare. Although several molecular causes have been found, it is emerging that considerable overlap in the clinical and biochemical features of these conditions exists.Objective and hypotheses: We inv...