ESPE Abstracts

Background: While some guidelines recommend 0.5–1.0 units/kg per day of subcutaneous insulin following resolution of diabetic ketoacidosis (DKA), up to 2 units/kg/day are used in various centers.Objective and hypotheses: To test the hypothesis that higher initial insulin doses would be more efficient during first 48 h of subcutaneous insulin therapy after DKA in cases with new-onset type 1 diabetes.Method: Records of patients ...

Background: Osteogenesis imperfecta (OI) is a rare congenital bone disease associated with defects in type I collagen synthesis resulting increased bone fragility, low bone mass, connective tissue manifestations and short stature. The majority of the types of OI are caused by autosomal dominant mutation in COL1A1 and COL1A2 genes. Here we showed the new, novel COL1A2 gene mutation at the heterozygous state in a family with OI.C...

Introduction: The association of precocious puberty and/or polycystic ovaries, delayed bone age and hypothyroidism is known as the Van Wyk and Grumbach syndrome (VWGS). Clinically this syndrome is a diagnostic challenge because hypothyroidism usually leads to pubertal and growth delay, whereas in case of VWGS hypothyroidism it leads to growth delay and precocious puberty. We report a boy with long-standing, untreated hypothyroidism who presented with precocious puberty.<p ...

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...

Background: Adrenal insufficiency is an important and potentially life-threatening condition, and it is also known as a rare cause of hypercalcaemia.Objective and hypotheses: Resistant hypercalcemia may be associated with hypocortisolism.Method: A 18-day-old male infant was born at 36 weeks by emergency cesarean section for fetal distress and intrauterine growth retardation. He was referred to paediatric endocrinology because of th...

Background: Ovotesticular disorder of sexual development (DSD is a rare form of DSD in which both testicular and ovarian tissues are present in the same individual either in a single gonad (ovotestis) or in opposite gonads with a testis and an ovary on each side.Objective and hypotheses: To discuss rare cases of ovotesticular DSD and one of the novel findings of these cases.Methods and patients: Case 1 is the first child of unrelat...

Background: Among autoimmune disorders, autoimmune thyroid diseases are the most prevalent pathologies associated with premature ovarian failure.Objective and hypotheses: We aimed to investigate the ovarian function and reserve in euthyroid adolescents (TSH<2.5 mIU/l) diagnosed with Hashimoto thyroiditis (HT).Method: 30 adolescent girls (mean age 15.1±1.4 years) newly diagnosed as HT with presence of high thyroid antibodie...

Background: Mutations in the 21-hydroxylase gene (CYP21A2) accounts for 90–95% of all congenital adrenal hyperplasia (CAH) cases. There is a strong relationship between genotype and disease severity.Objective: The aim of the study was to investigate the most frequent known mutations in CYP21A2 and to describe the genotype-phenotype correlation in Turkish children with CAH due to 21-hydroxylase deficiency.Methods: Based on clin...

Background: Vitamin D dependent type 1 rickets is a rare, autosomal-dominantly inherited disorder due to an inactivating mutation in CYP27B1 (25-OH vitamin D-1-α-hydroxylase) gene. It is characterized by early onset of rickets with hypocalcemia. We report a boy admitted with symptoms of hypocalcemia and who carried a novel mutation in CYP27B1 gene.Case: The patient was admitted with tetany at the age of 12 months. When he had his first convulsion, h...

Introduct&idot;on: Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by damage to β cells in the pancreas. Neopterins and indolamine 2,3-dioxygenase (IDO) activity, which is shown by the ratio of kynurenine to tryptophan, can be used as an indicator in the regulation of cellular immunity. Oxidative stress produced by xanthine oxidoreductase has been shown to be associated with vascular endothelial dysfunction. It uses the conversion of p...