Endocrine Abstracts

Introduction: Familial Mediterranean Fever (FMF) is an autosomal recessive hereditary disease characterized by fever and inflammation of serous membranes. The most important complication of FMF is amyloidosis which has significant role in the prognosis. It is unclear how endocrine system hormones are affected in FMF. We present adrenal insufficiency in a an FMF patient without amyloidosis.Case: A 39 years old male patient who had been diagnosed with FMF ...

BackgroundCytochrome P450 oxidoreductase (POR) deficiency is an autosomal recessive steroidogenesis disorder similar to combined deficiencies of 17a-hydroxylase, 17, 20-lyase, 21-hydroxylase. POR deficiency (PORD) is a very rare type of congenital adrenal hyperplasia(CAH) characterized by sexual development disorders and skeletal anomalies. We present a case that was evaluated with a prediagnosis of nonclassical CAH and was found to have a heterozygo...