hrp0082p2-d3-357 | Diabetes (2) | ESPE2014

Early-Onset Autoinflammatory Partial Lipodystrophy Characterized by Recurrent Fever and Rash: Candle Syndrome

Demir Korcan , Yildiz Melek , Makay Balahan , Korkmaz Huseyin Anil , Elmas Ozlem Nalbantoglu , Ozkan Behzat

Background: CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) syndrome is a recently described autoinflammatory disease that manifests in early infancy with recurrent fever, violaceous swelling of the eyelids, purpuric skin lesions, hypochromic anemia and elevated acute phase reactants. It is autosomal recessively inherited and associated with partial lipodystrophy, growth retardation and hepatomegaly. PSMB8 (proteasome subu...

hrp0082p2-d2-583 | Sex Development (1) | ESPE2014

Novel Mutation in a Newborn with a Rare Cause of 46,XY Sex Reversal: 17β- Hydroxysteroid Dehydrogenase Type 3 Deficiency

Demir Korcan , Yildiz Melek , Elmas Ozlem Nalbantoglu , Korkmaz Huseyin Anil , Ozkan Behzat

Background: 17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency is a rare cause of 46,XY sex reversal due to a defect in conversion of androstenedione to testosterone. It is autosomal recessively inherited and caused by mutations in 17HSD3.Objective and hypotheses: To define clinical and laboratory characteristics of 17β-HSD3 deficiency during neonatal period.Method: An 8-day-old newborn with female externa...

hrp0082p3-d2-720 | Diabetes (1) | ESPE2014

Anti-Cyclic Citrullinated Peptide Antibodies are not Frequent in Children with Type 1 Diabetes

Yildiz Melek , Isleten Figen , Demir Korcan , Celik Nilufer , Korkmaz Huseyin Anil , Tuglu Birsen , Elmas Ozlem Nalbantoglu , Ozkan Behzat

Background: Type 1 diabetes mellitus is characterized by presence of several organ specific autoantibodies. Anti-cyclic citrullinated peptide (anti-CCP) antibody is a promising marker of rheumatoid arthritis (RA) which is known to coincide with autoimmune diabetes. Presence of these antibodies was not investigated in children with type 1 diabetes.Objective and hypotheses: To evaluate presence of anti-CCP antibodies in children with type 1 diabetes compar...