Endocrine Abstracts

Introduction: The 22q11.2 deletion syndrome (22q11.2DS) caused by a microdeletion of the 22q11.2 region of chromosome 22 is the most common deletion in humans causing a variety of disorders, including DiGeorge syndrome (OMIM #188400), velocardiofacial syndrome (OMIM #192430) and distal chromosome 22q11.2 deletion syndrome (OMIM #611867). Most individuals diagnosed with this condition are identified in early childhood and the diagnosis in adults is uncommon. It is characterized...

Introduction: Non-celiac gluten sensitivity (NCGS) belongs to gluten-related disorders. Patients with NCGS develop a variety of intestinal and/or extraintestinal symptoms such as abdominal pain, bloating, bowel habit abnormalities, nausea, gastroesophageal reflux disease and aphthous stomatitis, that improve when gluten is removed from the diet. The diagnosis is made after exclusion of coeliac disease and wheat allergy. Although thyroxine malabsorption has been described in pa...

Purpose: We aimed to validate the diagnosis and estimated national incidence of acromegaly reported in the Swedish National Patient Register (NPR), based on clinically reported International Classification of Diseases (ICD-codes), in comparison with the Swedish Pituitary Register (SPR).Methods: All patients in NPR or SPR between 1991-2018 with the ICD-9 or ICD-10 diagnosis of acromegaly and age >18 years at diagnosis were included. The diagnosis was ...

Background: Diabetic ketoacidosis (DKA) has been associated with severe hemolysis in patients with Glucose-6-phosphate dehydrogenase (G6PD) deficiency after restoration of euglycemia. Less than 30 cases have been reported so far. The exact mechanism is not fully understood.Case presentation: A 35-year-old African American man presented to the emergency department with polyuria, polydipsia, abdominal pain and weight loss the last 15 days. Physical examina...