ESPE Abstracts

Spondyloepiphyseal dysplasia tarda (SEDT) is an inherited disorder that is diagnosed in childhood or adolescence presents with disproportionate short stature and premature osteoarthritis with frequently affecting men. Here, we described a novel nonsense mutation, c.508A>T; p.Lys170Ter, in TRAPPC2 in a Turkish patient with X-linked SEDT. The patient is a 15-year-old boy from Turkish non-consanguineous parents, presented decreasing height velocity last three years and also th...

Background: Mutations in the PPARG gene, encoding peroxisome proliferator-activated receptor-gamma (PPARG) are associated with Familial lipodystrophy type 3. PPARG regulates fatty acid storage and glucose metabolism. The genes activated by PPARG stimulate lipid uptake and adipogenese by fat cells. In cases of lipodystrophy and defects of adipogenesis lipoid accumulates ectopically in the liver, skeletal muscle, pancreas and cardiovascular tissues and impairs the function of th...

Objective: We aimed to evaluate the relationship between serum myostatin levels and metabolic parameters in children with insulin dependent (Type 1) diabetes mellitus and to show the relationship with sarcopenia in children with insulin dependent diabetes mellitus.Methods: Forty -four patients aged between 8 and 16 years, and 45 control patients were enrolled in the study. Anthropometric measurements and laboratory analy...

Background: Thyrotropin receptor (TSH-R) stimulating autoantibodies (TSAb) are present in 90-100% of patients with Graves’ disease (GD). TSAb are functional, impact thyroid function, and are clinically relevant. This study we performed in a pediatric patients with dynamic of Graves’ disease before and during methimazole therapy and in patient with Hashimoto’s thyroiditis using a novel and ultra-rapid TSAb andTBAb bioassay.<p class="abstex...

Background: Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycaemia and is due to the unregulated secretion of insulin from the pancreatic β-cells. The role of glucagon like peptide-1, gastric inhibitory polypeptide (GLP1/GIP), and dipeptidyl peptidase-4 (DPP4), is currently unknown in patients with CHI.Objective and Hypotheses: To understand the expression pattern of DPP4 in focal and diffuse disease CHI.<p class="ab...

Background: In adrenal gland 3β-HSD2 catalyses the conversion of Δ5 to Δ4 steroids (i.e., pregnenolone to progesterone,17 α-hydroxypregnenolone to 17-OHP and DHEA to androstenedione). Defect in this enzyme can affect glucocorticoid, mineralocorticoids and sex steroid synthesis but the clinical and biochemical profile can be very complicating and confusing due to conversion of intermediate steroids to more ac...

Background: Aromatase deficiency is a rare autosomal recessive condition due to mutation in CYP19A1 encoding aromatase enzymes. This enzyme protects fetus and mother from excess of androgens by converting them into estrogen. Lack of its activity results in accumulation of androgens which in turn lead to maternal and fetal virilization. We are reporting a neonate with atypical genitalia with severe maternal virilization due to a novel mutation in C...

Brown tumor is a rare non-neoplastic focal giant cell lesion resulting due to increase osteolytic activity by excess of parathormone in cortical bone which is replaced by fibrovascular tissue, giant cells with hemorrhages and hemosiderin. It is a rare late stage bone sequelae of long standing hyperparathyroidism. Parathyroid adenoma is the commonest cause of primary hyperparathyroidism.We present a referred case of 15-year-old girl with highly aggressive...

Background: The melanocortin-4-receptor gene (MC4R) is a key regulator of energy homeostasis, food intake and body weight which has intensively been analyzed in molecular genetic obesity research. MC4R dysfunction in humans causes hyperphagia, impaired satiety and obesity.Objective and hypotheses: To identify MC4R mutations prevelance in Turkish obese children and adolescents.Method: Ninenty three pediatric and adolescent patients ...

Background: Isolated GH deficiency (IGHD) may be due to several different causes. Mutations in the GHRH receptor (GHRHR) gene are a relatively rare cause of IGHD.Objective and hypotheses: To understand the molecular cause of severe short stature in a large highly consanguineous family with IGHD.Method: Affected patients were evaluated for GH secretion and other anterior pituitary function. Anterior pituitary size was measu...