ESPE Abstracts

Introduction: Anti-thyroid arthritis syndrome (AAS) is a rare complication that may occur in patients treated with anti-thyroid drugs. Presentation is variable and may include myalgia, arthralgia, skin rash, high fever, and polyarthritis. Herein, we present a girl diagnosed with AAS. Case report: A 9-year-old girl was admitted to emergency complaining of fever and arthralgia. She was the second child of non-consanguineous healthy parents. She had been d...

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...

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...

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: Ectopic posterior pituitary gland (EPP) is characterized by an abnormal pituitary stalk and hypoplasia of the anterior hypophysis. The genetic mechanisms involved in the development of EPP remain uncertain.Objective and hypotheses: The aim of this study is to determine whether mutations in the three genes, PROP-1, LHX2, and POU1F1, are associated with the risk for and the characteristics of EPP.Method: In the Endocrinol...

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by susceptibility to tumours including haemangioblastomas of retina and central nervous system, renal cell carcinoma and phaeochromocytomas. The disease is caused by mutations in the VHL tumour suppressor gene.Objective and hypotheses: We present an adolescent with VHL disease confirmed by genetic analysis which revealed the mutation p. A149P (PCC>GCC), which ...

17 alpha hydroxylase, 17–20 lyase deficiency is an autosomal recessive inherited congenital adrenal hyperplasia type which is due to mutation in CYP17A1 gene and characterized with adrenal and gonadal sex steroid deficiency, delayed puberty in girls, XY sex development disorder in boys and hypergonadotrophic hypogonadism in both gender.Case: 15 year old girl referred to our clinic with vomiting, fatigue and muscle spasms. In her physical examination...

Background: Hyperthyroidism is a condition rarely found in children. In the majority of cases, it is a Grave's disease whose clinical expression is very similar to that observed in adults.Objective: describe the clinical, evolutionary and therapeutic epidemiological features in children with hyperthyroidism and especially Grave's disease.Materials and Methods: This is a ret...

Background: Childhood is a dynamic process with continuous growth and development. Growth charts are essential for the assessment of children’s health status. Standards previously established in children aged 6–18 years, according to percentile curves are used in Turkey.Objective and hypotheses: To determine the effect of different environmental factors on growth of children with the same genetic origin. We investigated the parameters of growth...