ESPE Abstracts

Background: Mutations in genes encoding type 1 procollagen (T1PC) and proteins responsible for posttranslational modifications of the T1PC heterodimer may result in brittle bone disorder osteogenesis imperfecta (OI). FKBP65 is a known chaperone for type I procollagen and encoded by FKBP10. Autosomal-recessively inherited epidermolysis bullosa simplex and moderately severe OI caused by FKBP10 mutation reported in consanguineous Turkish and Mexican families.</p...

Background: Hashimoto thyroiditis (HT) is the most common autoimmune disorder. There are few studies that analysed the relationship between HT and serum vitamin D.Objective and hypotheses: It has been suggested that vitamin D acts as an immunomodulator in autoimmune diseases such as HT Therefore we planned to investigate vitamin D status in euthyroid girls with HT.Method: The study group consisted of 66 euthyroid pubertal girls rec...