Endocrine Abstracts

Introduction: Some endocrine disorders, including hypophysitis and isolated adrenocorticotropic hormone (ACTH) deficiency, are caused by an autoimmune response to endocrine organs. Previous data have also shown that isolated ACTH deficiency may be associated at least in part with a paraneoplastic syndrome. We present a rare case with isolated ACTH deficiency along with ectopic posterior hypophysis.Case presentation: A 53-yea...

Introduction: Graves’ disease (GD) is an autoimmune thyroiditis frequently associated with development of Graves’ orbitopathy (GO). As a consequence, patients with GO experience impairment of quality of life (QoL) and social function. The aim of our study was to assess quality of life in patients with GO.Methods: This is a single-center observational study in an outpatient clinic of autoimmune endocrinopathies at a Tertiary, General, Universi...

IntroductionJacobsen syndrome (JS) is a rare gene disorder caused by a terminal deletion of the long arm of chromosome 11. The estimated prevalence of Jacobsen syndrome is 1/100.000 births. It is most commonly presented with psychomotor and physical growth retardation, dysmorphic facial features, thrombocytopenia or pancytopenia. It is also characterized by congenital heart defects, and kidney, gastrointestinal tract, genitalia, CNS and skeletal deformit...