ESPE Abstracts

Introduction: Growth hormone (hGH) and/or growth factors are thought to play a role in the pathogenesis of diabetic retinopathy. Increased treatment of human growth hormone (hGH) in children rise questions concerning the safety of GH replacement therapy on ophtalmic changes. Adverse effects of hGH treatment (pseudotumor cerebri, papilloedema, retinal changes mimicking diabetic retinopathy, neovascularization) have been reported in some papers. In this study, i...

Introduction: Congenital adrenal hyperplasia is an autosomal recessive disorder characterized by enzyme deficiencies in the adrenal steroidogenesis pathway. The most common type is 21 hydroxylase deficiency and is divided into two groups as classical and nonclassical type. 75% of the classical type of cases is salt-losing type, and cortisol and aldosterone deficiency symptoms occur in patients. Female cases presented with ambiguus genitalia due to hyperand...

Introduction: Graves' disease is the most common cause of hyperthyroidism in children with autoimmune thyroid disease. Clinically, goiter, tachycardia, restlessness, craniosinostosis, hyperactivity, growth retardation, diarrhea may occur.Graves' disease is rare under 4 years of age. Treatment options include antithyroid therapy, surgery, and radioiodine therapy. The most commonly used antithyroid therapy is methimazole and has serious side effects such...

The aim of this study was to investigate the clinical and laboratory features of patients who received recombinant human growth hormone (rhGH) treatment and to investigate the factors that determine the response to rhGH treatment. The clinical features of children treated at least one year with rhGH were retrospectively analyzed. Patients were grouped according to diagnosis; isolated GH deficiency (IGHD), multiple pituitary hormone deficiency (MPHD), Turner s...

Keywords: Hashimoto’s thyroiditis, autoimmune thyroiditis, hypothyroidismObjective: In our study, it was aimed to determine the clinical course of the disease by evaluating the cases diagnosed with Hashimoto's thyroiditis (HT) periodically, clinically, laboratory, and radiologically.Material and Method: Patients diagnosed with HT without chronic systemic disease, drug us...

Introduction: GLIS3 is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein that maps to chromosome 9p24.3-p23. Mutations in GLIS3 have been reported in association with Neonatal diabetes mellitus and hypothyroidism syndrome. We aimed to present a case of congenital diabetes mellitus congenital hypothyroidism associated with a newly identified mutation in the GLIS-3 gene.Case Report: A se...

Allgrove’s or ‘4A syndrome’ is a rare autosomal recessive multisystem disorder characterised by adrenocorticotropin hormone resistant adrenal insufficiency,alacrima ,achalasia and neurological abnormalities. The disease-causing gene (AAAS) encodes a protein of 546 amino acids called ‘aladin’ (for alacrima-achalasia-adrenal insufficiency-neurologic disorder). We report two siblings and three cousins suffering from Allgrove syndrome in a Turkish family. ...

Background: Premature pubarche is a diagnosis of exclusion, and it is a benign period. Non-classic congenital adrenal hyperplasia (NC-CAH) is one of the most important causes in the differential diagnosis of premature pubarche.Objective and hypotheses: In this study it was aimed to evaluate the clinical and laboratory data, of 75 cases (five male, 70 female) diagnosed as premature pubarche. Additionally basal 17-hydroxyprogesterone levels determined as N...

Background: Type 1 diabetes mellitus (T1DM) is the most common endocrine disease in children and adolescents.Objective and hypotheses: It was aimed to evaluate the frequency of autoimmune thyroiditis (AT) and the possible risk factors for AT at diagnosis and at follow up of T1DM patients.Method: T1DM patients who were admitted to Trakya University Medical Faculty Pediatric Department, Pediatric Endocrinology Outpatient Clinic betwe...

Background: Adrenocortical carcinoma (ADCC) is a rare cancer in children and differs significantly in epidemiology, clinical characteristics, and biologic features from their counterparts in adults. Germline mutations of the TP53 tumor suppressor gene are associated with cancer predisposition in families with the Li-Fraumeni syndrome.Aim: To report a young girl with family a history of ADCC who presented with severe virilisation secondary to ADC...