Endocrine Abstracts

Introduction: Defects in the pseudogene, CYP21A1P, can be transferred to the functional CYP21A2 gene by recombination and account for approximately 95% of CYP21A2 mutations, leading to CAH-21OHD. We conducted a comprehensive genetic analysis to assess whether Multiplex Ligation dependent Probes Amplification (MLPA) could substitute southern blotting with radioactive probes without compromising reliability of the diagnosis.Patients and Methods: We studied...

Background: Patients with type 1 diabetes (T1DM) are known to have a higher risk of developing other autoimmune diseases. The most common associated disorders are thyroid autoimmunity (Graves’ disease or Hashimoto’s thyroiditis) and celiac disease.The aim of this study was to investigate the prevalence of other autoimmune disorders in T1DM patients of our clinic.Methods: We reviewed 269 files of children and adolescents w...