Endocrine Abstracts

Background: The effect of long term opioids on the hypothalamo-pituitary–adrenal (HPA) axis is conflicting. We present a case of a 21-year-old female who presented with adrenal insufficiency (AI) secondary to chronic tramadol use.Case summary: Our patient presented with a three year history of non-specific abdominal pain, lethargy and dizziness. No cause was found for these symptoms despite thorough investigations. One month before referral to Endoc...

Non-diabetic euglycaemic ketoacidosis (NDEK) is a rare condition defined as euglycaemia, metabolic acidosis and elevated serum ketones occurring in patients without diabetes mellitus. It is less well known compared to diabetic ketoacidosis (DKA) and euglycaemic diabetic ketoacidosis (EDKA), both happening in patients with diabetes. Here we describe a case of a 35-year old woman, previously fit and well, who presented with unidentified cause of pancreatitis leading to severe me...

39-year-old female, with a past medical history of Graves Hyperthyroidism, underwent total thyroidectomy 18 years ago, with resultant hypoparathyroidism, hypocalcaemia and hypothyroidism. Her calcium levels are usually in the range of 1.6-1.8 mmol/l, but there are times when it can go to dangerously low levels (range of 1.4-1.15 mmol/l) causing symptoms, sometimes with ECG changes, requiring hospital admissions and IV calcium replacements. There is no parathyroid activity dete...

Background: Familial glucocorticoid deficiency (FGD) is characterised by isolated glucocorticoid deficiency, with preserved mineralocorticoid production. FGD type 2 is caused by mutations in MRAP encoding the melanocortin-2 receptor accessory protein. MRAP has a single transmembrane domain essential to its function in trafficking the MC2R/ACTH receptor. 15 mutations in MRAP have been described, five of which are within the canonical donor splice-site of intro...

Background: Gaining a correct genetic diagnosis for patients with adrenal insufficiency is important not only to enable genetic counselling within their families, but also for correct treatment and long term management. Adrenal insufficiency is genetically heterogeneous and the long-term sequelae for many of the gene defects, including the progression of the disease and involvement of other tissues, is unknown. Next-generation sequencing (NGS) technologies allow parallel seque...

Background: The purpose of this study was to investigate the occurrence of autoimmune thyroid disease in children and adolescents at onset of type 1 diabetes mellitus (T1DM) and to assess whether the presence of diabetes-specific autoantibodies may predict the autoimmune thyroid disorder.Methods: Seventy-three children with T1DM were recruited in the study. Glutamic acid decarboxylase antibodies (GADA), Islet cell antibodies (ICA), insulin autoantibodies...

Aims: This population-based cross-sectional study aimed to investigate the recent trends in the prevalence and treatment of gestational diabetes mellitus (GDM) in a nationally representative sample of Korean patients. We also investigated trends of annual prevalence rate of pregnancy-induced hypertension (PIH) and cesarean section (C-section) in patients with GDM.Methods: We used data from the Health Insurance Review and Assessment-National Patient Sampl...

Aims/Introduction: It is thought that adipocytokines contribute to the increased riskof vascular complications in type 2 diabetes (T2DM). However, some data indicate that adipocytokines may protect against cardiovascular disease. The net effects of adipocytokines on vascular pathology are complex and not completely understood. Although previous our cross-sectional studies showed that adipocytokines such as adiponectin, leptin, and TNF-alfa were associated with vascular complic...

Hypophosphatasia (HP) is a rare inborn error of metabolism resulting from inactivating mutations in the gene for the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Deficiency of alkaline phosphatase (ALK) activity leads to severe rickets. The perinatal form presents with extreme skeletal hypomineralisation at birth, and was a fatal condition until recently. We describe an 11-month-old infant who is one of the few surviving cases of a preterm infant with ...

Retinopathy has been observed in around 25% of patients with type one and type two diabetes for 3–5 years. Diabetic retinopathy can cause poor vision and even blindness since high glucose has been evidenced to weaken retinal capillary leading to leakage of blood into the surrounding space. Therefore, the prevention, diagnosis and therapy of diabetes retinopathy are very important in diabetes patients. Here, we adopted a proteomics-based approach using 2D-DIGE and MALDI-TO...