ESPE Abstracts

Introduction: DICER1 syndrome is a pleotropic, autosomal dominant familial genetic tumor predisposition syndrome. DICER1 somatic + germ-line mutations (double hit hypothesis); cystic nephroma; pleuropulmonerblastoma, ovarian sex cord-stromal tumors, multinodular goitre (MNG) are associated with many conditions such as differentiated thyroid cancer, pituitary blastoma. We presented three cases, two of whom were siblings, who had been consulted because of no...

Introduction-Aim: MODY;It is an autosomal dominant, rare type of diabetes that occurs in young people as a result of mutations of beta cell function and genes involved in insulin secretion. The cases may be misdiagnosed as Type1 and Type2 diabetes. Considering that MODY is clinically and genetically heterogeneous, the findings should be evaluated correctly. It is important to define the clinical-laboratory characteristics of diagnosis and follow-up of patients...

Aim: Recent studies have shown that the first hour glucose concentration of ≥155 mg / dL in the oral glucose tolerance test (OGTT) in adults with normal glucose tolerance (NGT) may be a strong marker for the development of diabetes, and also an increase in subclinical inflammation, insulin resistance, dyslipidemia and serum transaminases. These results indicate that adults with NGT have increased risk of developing cardiovascular disease and non-alcoholi...

Introduction: Growth hormone therapy (GHT); have been used in rare diseases such as growth hormone deficiency (GHD), panhipopituitarism (PHP), intrauterine growth retardation (IUGR), Turner Syndrome(TS) for many years while the effects of diagnostic timing on the treatment results are known. However,data on the diagnosis and treatment processes of these diseases are limited in our country. The aim of this study was to evaluate the results of diagnosis, follow-...

Aim: In this study, we planned to evaluate the patients with hyperprolactinemia etiology, clinical features and treatment responses.Material and Method: We evaluated retrospectively the features, clinical follow-up data and treatment responses of the patients with hyperprolactinemia in our pediatric endocrinology clinic between 01.01.2012-31.12.2018.Results: Thirty-one patients wit...

Introduction: Isolated hypoaldestronism is a rare endocrinopathy in a limited number of patients who secrete normal level of cortisol, due to mutation in CYP11B2. In some cases clinical diagnosis can be late and genetic analysis showed difficulties.Case 1: A 7 month-old girl infant was referred to endocrinology department due to womiting, failure to thrive and severe hyponatremia with unexplained neutropenia. She was bor...

Introduction: Differential diagnosis should include congenital adrenal hyperplasia (CAH) in premature adrenarche patients. Clinically, it is possible to diagnose late onset and simple virilisation CAH caused by 21 hydroxylase deficiency because the criteria are better defined and genetic tests are widely available. But especially late onset 11 Beta hydroxylase deficiency can be very difficult to diagnose because the diagbostic criteria are not well defined and...

Introduction: Increased cytokine release, impaired antioxidation and reactive oxygen species (ROS) have been shown in β-cells in pathogenesis of T1DM. Increased ROS leads to formation of covalent bonds between the sulfur atoms, leading to disulphide conversion. Displacement to disulphide form of this thiol/disulphide balance starts the oxidative damage. This study evaluates the thiol/disulphide balance in children with T1DM.Material...

Background: Short stature homeobox-containing (SHOX) gene that strongly affects height. Due to high prevalence of SHOX gene mutations, in all children with unexplained short stature should be investigated to benefit from early growth hormone (GH) treatment. The aim of this clinical study was to determine the rate of SHOX haploinsufficiency in short stature patients and describe their anthropometric measurements.Methods: Between...

Introduction: Subclinical hypothyroidism is a form of thyroid dysfunction in which TSH level is high while serum free thyroxin (fT4) and free triiodothyronine (fT3) are within normal reference range. In this study, it was aimed to investigate effects of subclinical hypothyroidism on anthropometric characteristics, blood pressure, glucose and lipid metabolism by evaluating course of subclinical hypothyroidism during follow-up without treatment.<p class...