ESPE Abstracts

Background: Endothelial dysfunction underlies lung and other organ complications developing in associated with diabetes. Endothelial dysfunction leads to an increase in cytokine levels and oxidative stress. Studies have shown that the endothelin plays significant roles in the development of diabetic complications.Objective and hypotheses: The aim of this study is to show the effect of a new mechanism on endothelin receptors in the physiopathology of diab...

Background: Thyroid nodules are rare in children compared to adults. Although most thyroid nodules are benign, the risk of malignancy is greater in pediatric patients.Case: We described a 10-year-old boy who presented with a right sided thyroid nodule that was 12×8 mm. He had not cervical lymphadenopathy. His fine needle aspiration biopsy cytology was benign. It was subsequently diagnosed as a Hurthle cell adenoma after thyroidectomy. In histopathol...

Background and Objective: Homozygous mutations in the “Centrosomal Protein-19 (CEP19)” gene are extremely rare causes of early-onset severe monogenic obesity. We, herein, report three siblings with CEP19 mutation.Case Presentation and Method: The index case was a 12-years-old female who presented with severe obesity (BMI:62.7kg/m2), metabolic syndrome and diabetic ketoacidosis. Her non-identical twin female s...

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...

Background: The studies investigating kisspeptin levels in the neonatal period is very limited.Objective and hypotheses: This study was intended to investigate plasma kisspeptin hormone levels in newborns with or without breast growth.Method: This prospective study was performed to determine plasma hormone levels of kisspeptin in patients admitted to the Erzurum Ataturk University Faculty of Medicine Research and Educational Hospit...

Objective: Vitamin deficient (VDD) rickets can manifest with skeletal (hypocalcemia, hypophosphatemia, elevated serum alkaline phosphatase and defective bone mineralization) and extra-skeletal findings. There are certain number of case reports and limited number of small scale studies reporting dilated cardiomyopathy due to VDD rickets.The aim of the present study is to evaluate the clinical, biochemical and echocardiographic features of...

Aim: The most common cause of persistent hypoglycemia and related brain damage in infancy is congenital hyperinsulinism (CHI), due to inappropriate secretion of insülin by pancreatic βcells. The most frequent and most serious mutations are activating mutations in ABBC8 or KCNJ11 genes. Genetic analyses, which might predict the type of lesion, performed in early period and 18f dopa pet scanning are very valuable for treatment choice and follow-up of the patients. In t...

Objective: The systemic form pseudohypoaldosteronism type 1 (PHA1) is an autosomal recessive disorder characterized with defective sodium transport in many organ systems including kidney, lungs, colon, sweat glands and salivary glands. Homozygous or compound heterozygous loss-of-function mutations in the genes encoding amiloride sensitive epithelial sodium channel (ENaC) account for genetic causes of systemic PHA1.Case 1: Male patient presented with vomi...

Background: Wolfram syndrome (WS or DIDMOAD) is a rare (prevalence of 1/770,000) autosomal recessive multi-systemic neurodegenerative disease, characterized by non-autoimmune diabetes mellitus (DM) and optic atrophy. Additional features include diabetes insipidus (DI), sensorineural deafness, urinary tract abnormalities, ataxia, psychiatric illness, and other endocrine disturbances leading to death in mid-adulthood. This syndrome is caused by recessive mutations in the wolfram...

Context: Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited.Objective: To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream ...