ESPE Abstracts

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: The annual incidence of Langerhans cell histiocytosis (LCH) is 5 per million in admission with a diagnosis of isolated central diabetes insipidus (CDI) in children under the age of 15. Here, the process leading to the diagnosis of LCH at presentation with isolated CDI, imaging findings, and the sellar erosion, which has not been previously reported in the literature, will be discussed.Case presentation: A 4-year-5-month-old...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is an inherited peroxisomal disease characterized by beta oxidation disorder that causes the accumulation of very long chain fatty acids (VLCFA) in all tissues. It presents with clinical signs due to accumulation of VLCFA in brain white matter, testes, adrenal cortex and skin fibroblasts. Here, we will present a case applied to the outpatient clinic due to not going through puberty period and who was diagnose...

Background: Gitelmann syndrome, a rare autosomal recessive disorder, is characterised with hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Mutations in the SLC12A3 gene, which encodes for ‘Thiazid sensitive sodium chloride co-transporter channels’ located at the renal distal convoluted tubules account for the underlying molecular mechanism of Gitelmann syndrome. Although, is less frequent than those seen in ‘Bartter Syndrome’, the exact m...

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...

Objectives: Trichorinophalangeal syndrome (TRPS) is a cause of syndromic short stature; and is characterized by typical dysmorphology, ectodermal dysplasia, and skeletal findings. There are two types of TRPS; TRPS-I caused by monoallelic pathogenic variants in the TRPS1 gene, and TRPS-II caused by whole gene deletion. TRPS-II; also called Langer-Giedion Syndrome (LGS), in which multiple exocytoses can be seen in addition to typical TRPS features due t...

Background: We aimed to assess whether or not anthropometric indices such as weight circumference (WC), waist/hip ratio (WHR), waist-height ratio (WHtR), and weight for height (W/H) are predictors for metabolic syndrome (MetS) among obese children and adolescents. We aimed to describe effects of gender and pubertal status on these anthropometric indices.Method: A total of 291 obese children and adolescents (160 girls and 131 boys, age range: 6–16 ye...