ESPE Abstracts

Background: There is currently an inadequate number of studies on nodule and malignancy development in children and adolescents with Hashimoto thyroiditis (HT).The aim of our study was to determine the rate of thyroid nodules and the nodule malignancy rate in our pediatric HT patients.Material and methods: Patients who were diagnosed with HT between 2004 and 2013 were included in the study. The HT diagnosis was made with the elevation of anti-TPO and ant...

Background: Although it is reported that central precocious puberty (CPP) GnRH analogue (GnRHa) treatment decreases the growth velocity, its relation with IGF-1 is controversial. We aimed to investigate the effects of GnRHa treatment on IGF-1 level and the relationship between IGF-1 level and growth velocity (GV) in our study.Method: Forty-four girls with CPP, who started breast development before the age of 8 years, were enrolled in the study. IGF-1 lev...

Background: Orthopedic complications related to the GH are rare and there is no clear pathological association between the use of GH and these complications. Calcaneal apophysitis is an inflammation of the apophysis and is caused by the constant pull of the Achilles tendon. A literature search did not reveal a similar case of calcaneal apophysitis during GH use.Case presentation: A 13-year-old male receiving GH treatment for isolated GH deficiency presen...

Introduction: The production of ischemia-modified albumin (IMA) is associated with the production of reactive oxygen species modifying the metal-binding sites of albumin. IMA is considered a non-specific early biomarker in the evaluation of oxidative stress status. Cortisol is known to trigger anti-inflammatory actions through genomic and non-genomic pathways that eventually lead to decreased production of cytokines, chemokines, and inducible nitric oxide synt...

Introduction: ‘Receptor tyrosine kinase-like orphan receptor 2 (ROR2)’ is a transmembrane protein tyrosine kinase encoded by the ROR2 gene. Pathogenic mutations in ROR2 are involved in two diseases: biallelic loss-of-function mutations in Robinow syndrome and monoallelic gain-of-function mutations in brachydactyly type B1. Recently, monoallelic loss-of-function mutations in ROR2 have been reported as a cause of isolated short stature. Here we repor...

Objective: AMH decreases by 30% in the first two years following puberty. Although it is known that AMH is associated with FSH and LH, the AMH response to rapid changes in GnRH is not known clearly in puberty. It has been shown that AMH levels in central precocious puberty (CPP) are lower than in premature thelarche (PT), but the levels of AMH in peripheral precocious puberty (PPP) have not been evaluated. The aim of this study was to evaluate the basal an...

Background: Prohormone convertase is an enzyme that converts many biologically inactive prohormones into biologically active peptides. Its deficiency is characterized by deficiency of variable levels in all the hormone systems. In relation to this, postprandial hypoglycemia has been reported but, a case of prohormone convertase deficiency presenting with a diagnosis Type 2 diabetes mellitus has not been previously reported.Case p...

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...

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-...