ESPE Abstracts

Background: It is known that PDX-1 gene mutation is related to neonatal diabetes, pancreas agenesis and intrauterine growth retardation. Here the aim was to present a novel defined mutation in PDX-1 gene in case born with IUGR, diagnosed with neonatal diabetes and in which exocrine pancreas deficiency and gallbladder agenesis were detected.Case presentation: Blood glucose was measured as 185 mg/dl in the first hour after birth and insulin infusion was gi...

Background: Collodion babies (CBs) are an inherited group of diseases characterized clinically by diffuses severely dry and scaling skin. Patients are generally born prematurely and/or small for gestational age (SGA). Congenital hypothyroidism is seen together with various congenital anomalies, although the mechanism involved is still unclear.Objective and hypotheses: To identify endocrinological problems, and particularly those concerning growth, in 42 ...

Background: Many clinicians are aware of the systemic complications of obesity, however there are few studies on the effect of the ocular manifestations of obesity. The ocular complications of obesity include diabetic retinopathy, high intraocular pressure, cataracts, macular degeneration, floppy lid syndrome, pseudotumor cerebri, and exophthalmos. All of these complications can have serious consequences to the individual’s ocular health and visual well-being.<p class...

Background: Intratubular Large Cell Hyalinizing Sertoli Cell Neoplasia (ITLCHSCN) resulting from Sertoli cells of the testis are mainly reported in young adults and these are rarely seen in childhood.Objective and hypotheses: In this case report, an eight-and-a-half-year old case presenting with complaint of bilateral gynecomastia since two years, showing no endocrine abnormality in laboratory during 2-years of follow-up, determined to have progression i...

Background: Multiple endocrine neoplasia (MEN)1 is a rare autosomal dominant disorder with primary hyperparathyroidism, enteropancreatic neuroendocrine tumors and anterior pituitary adenomas.Patient: A16-yr-old male was referred to our center due to recurrent seizures. Family history was significant for maternal death due to metastatic adenocarcinoma of the lung,paternal history of low-grade liposarcomas and nephrolitiasis. Physical examination was norma...

The weight of birth affects the weight status and fat distribution in the later period of life. It is suggested that both low and high birth weight pose a risk for cardiometabolic diseases. In this study, the effects of birth weight on body fat mass and body fat distribution parameters during childhood and adolescence period were evaluated.Method: In this cross-sectional study, 4581 children ages between 6-17 years at primary and secon...

Background and hypothesis: Mitochondrial disorders are multisystemic conditions associated with sensorineural hearing loss, encephalomyopathy, lactic acidosis, and non-autoimmune diabetes. The majority of molecular etiologies involve mutations in the genes encoding the oxidative phosphorylation system's components. Superoxide generation is significantly increased and causes oxidative damage in the affected tissues in these disorders. The establishment of ...

Introduction: The hypothalamo-pituitary system is activated as puberty begins and GnRH release occurs as well as the synthesis of many hormones. These hormones cause changes on muscle development, body fat distribution. In this study, changes in miyostatin, irisin, kisspeptin, omentin and leptin levels and the relationship of these changes with physical properties and fat tissue were investigated.Material and Method: A t...

Introduction & Objectives: High consumption of processed foods rich in fat and sugar are associated with the increasing prevalence of metabolic disturbances like obesity, insülin resistance, dyslipidemia, type 2 diabetes mellitus. In the present study, we aimed to investigate the relationship between advanced glycation end products and metabolic disorders such as insulin resistance caused by high fructose and high-fat diet, and also examine histologic...

Aim: The pathophysiology of developing hypophosphatemia in children with diabetic ketoacidosis (DKA) has not been sufficiently elucidated. Fibroblast Growth Factor 23 (FGF23) is a hormone that causes phosphate excretion from the kidneys. The increase of FGF23 in children with DKA may explain the pathophysiology of hypophosphatemia in these children. The aim of our study was to investigate the effect of serum FGF23 on serum phosphorus level in children with DKA...