ESPE Abstracts

Background: Most of autoimmune disease such as type 1 diabetes (T1DM), autoimmune thyroiditis (AIT) and coeliac disease (CD) often coexist in the same patient. Although there are a lot of number of studies on autoimmunity against the thyroid glands and small bowel in patients with type 1 diabetes, little is known about pancreatic β-cell immunity in patients with AIT and CD.Objective and hypotheses: We studied autoimmune markers in children patients ...

Background: Involvement of multiple spesific endocrine organs in systemic lupus erythematosus (SLE), as initial manifestations, are quite rare. These manifestations can appear singly or combined. But they have been usually reported singly. We report a child case who coexists many of rare clinical features of SLE at the same time at onset.Objective and hypotheses: Polyglanduler autoimmune syndrome may be a part of SLE. Coexistence of many polyglanduler au...

Introduction and Aim: FGF-23 is a hormone that works by inhibiting phosphorus reabsorption in kidneys, and systematic regulation of phosphate homeostasis by FGF23 depends on the activity of the membrane protein Klotho. It affects the active vitamin level according to the bioactive free vitamin hypothesis, which binds DVBP to vitamin D and prolongs its half-life. In this study, it was aimed to investigate 1.25 (OH) Vitamin D, Vitamin D Binding Protein, FGF-23 a...

Background and objective: 21alpha-hydroxylase deficiency congenital adrenal hyperplasia (21OHD-CAH) is the most common etiology of inherited primary adrenal insufficiency (PAI) in children. Neonatal CAH screening is important for early diagnosis of salt-wasting 21OHD and other virilizing CAH (11beta-hydroxylase, 3beta-hydroxysteroid dehydrogenase deficiencies) and for avoiding mortality, especially in salt-wasting CAH. Neonatal CAH screening has become nationw...

Background: Hereditary hypophosphatemic rickets with hypercalciuria(HHRH; OMIM: 241530) is a rare autosomal recessive disorder,which is the result of loss-of-function mutations in the sodium-phosphate-cotransporter NPT2c.This disorder is characterized by renal phosphate(Pi) wasting,hypercalciuria,increased 1,25 (OH)2-D levels and decreased parathormone(PTH) levels.Here we report the clinical features of two siblings with HHRH,confirmed with molecula...

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: Kallmann syndrome (KS), the prototype of anosmic idiopathic hypogonadotropic hypogonadism (IHH), is charecterized with HH acompanied by anosmia, absence or hypoplasia of olfactory bulbus due to defective morphogenesis. Mutations in 10 genes have been reported to cause KS while can clarify the underlying molecular defect in about 30–50% of IHH/KS cases. Beside, PROK2 gene mutations are extremely rare cause of KS. Herein, we present KS due to a homozygo...

Copy-number variation (CNV) is a kind of malfunction of DNA polymerase to produce extra genetic material which leads to more number of repeats in genes. CNVs have been associated with different clinical phenotypes, such as learning disabilities, short stature, and intellectual disability. The chromosomal microarray analysis is an effective diagnostic method for identifying new CNVs and understanding their clinical effects. In this case report, a variation that has not been rep...

Introduction: Wolfram Syndrome (WFS: OMIM 222300), also known as DIDMOAD (diabetes mellitus, optic atrophy and deafness) is an autosomal recessive, progressive, neurologic, and endocrinologic, degenerative disorder caused by mutation in the WFS1 Gene. This report presents a case with a new defined mutation in WFS.Case presentation: Fourteen-year-old male patient was diagnosed with non-autoimmune type I diabetes at the age of 5 and insulin treatment was a...

Background and aim: Epidemiologic studies have been shown that obesity increases the risk of renal disease and it impact on prognosis. In this study, we aimed to investigate both glomerular and tubular involvement in asymptomatic obese children and to investigate the association of metabolic-anthropometric parameters with renal parameters.Material-method: Children with BMI ≥95th percentile and diagnosed as primary obesity (n=43) were inclu...