ESPE Abstracts

The metabolism of several trace elements is altered in diabetes mellitus (DM). The present study investigates serum levels of lipid profile and lipid per-oxidation as well as levels of Mg, Cu, Ni, Co, Mn, Cr, Se, V and Zn, in 72 males with non-insulin-dependent DM (T2DM) and 21 non-diabetic healthy control subjects using inductively coupled plasma optical emission spectrometry (ICP-OES). The results showed highly significant increase in serum concentrations of LDL-C, TG and ch...

Background: Adrenocortical tumors in childhood represent very rare about 0.2% of all pediatric malignancies. Cushing’s syndrome (CS) is characterized by clinical features caused by autonomous excessive glucocorticoid production from adrenal cortex. In ACTH-independent CS, the most common cause is unilateral cortisol-producing adrenocortical adenoma.Objective and hypotheses: Fifteen months old girl was admitted with gradually gain weight, pubarche, a...

The monocarboxylate transporter 8 (MCT8) is essential for transporting thyroid hormones to the brain. MCT8 deficiency occurs in SLC16A2 gene variants; patients usually present with neurological symptoms and are diagnosed with cerebral palsy or central hypothyroidism. Recently, 3,3',5-triiodothyroacetic acid (Triac) is used in treatment. This study aimed to evaluate the diagnosis and follow-up processes of five MCT8 deficiency patients. Five patients with variants in the S...

Objective: To evaluate the correlation of GNAS gene mutation in clinically diagnosed pseudohypoparathyroidism patients and to examine accompanying hormonal abnormalities and phenotypic features.Materials and Methods: Our study group consisted of 6 patients who were followed and treated with the diagnosis of pseudohypoparathyroidism in our clinic. Calcium (Ca), phosphorus (P), and parathyroid hormone (PTH) levels were eva...

Objective: To determine the periodic outcomes of systemic steroid use in ALL treatment and to develop preventive and early treatment approaches for osteoporosis.Materials and Methods: Our study group consisted of 34 patients who are under follow-up and treatment for ALL at our hospital. Patients receiving BFM ALL IC 2009 chemotherapy (CT) protocol and who completed the first 33 days of corticosteroid treatment (induction...

Beckwith-Wiedemann syndrome (BWS) is a congenital tumor-predisposition syndrome of which around 70% develops because of the methylation defects in the imprinted genes at chromosome 11p15.5. KCNQ1OT1 hypomethylation is the most common underlying genetic aberration in sporadic the BWS, accounting for 50% of the sporadic cases but confers the least tumor risk. We present a 5 month-old girl who presented with an excessive weight gain, cushingoid face, arrested gro...