Endocrine Abstracts

ACRD presents with clinical features of hyperandrogenism in females similar to those of PCOS (acne, hirsutism, oligomenorrhea, infertility), and precocious puberty in males. Obesity also occurs in some cases. Increased cortisol clearance leads to an increased hypothalamic-pituitary-adrenal axis drive resulting in elevated serum androgen levels and a decreased urinary cortisol metabolite: cortisone metabolite ratio below 0.5 (normal adult range 0.7–1.3). These observations...

Human studies indicate that local glucocorticoid (GC) generation within osteoblasts plays a critical role in various bone diseases. Human osteoblasts express the enzyme 11b-hydroxysteroid dehydrogenase type 1 (11b-HSD1) that converts inactive GCs (cortisone, dehydrocorticosterone) to their active counterparts (cortisol, corticosterone). This activation capacity critically depends on expression of a cofactor generating enzyme hexose-6-phosphate dehydrogenase. Enzyme expression ...

The metabolic syndrome, which encompasses features of obesity, insulin resistance, dyslipidaemia and hypertension, has been associated with excessive glucocorticoid (GC) exposure. The pancreas is a target of the adverse affects of GC action, resulting in β-cell damage and reduced glucose-stimulated insulin secretion (GSIS). 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) catalyses the in vivo conversion of inactive to active glucocorticoids (cortisone E/11-de...

Background: Thyroid eye disease (TED) is an autoimmune inflammatory disease that can be both disfiguring and potentially sight threatening. Suppression of inflammation in active disease can reduce the risk of visual loss and limit long-term sequelae of the disease. Current disease management involves suppression of inflammation using glucocorticoids. The aim of our study was to evaluate the efficacy of early disease intervention with targeted immunomodulatory therapy to alter ...

Background Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD), characterized by early onset of hyperglycemia, autosomal dominant inheritance and defect in β-cell insulin secretion. To date, various MODY subtypes have been reported, each one of a distinct genetic etiology. Materials and methods A total of 114 patients of Greek orig...

BackgroundCushing’s disease (CD) is caused by high levels of blood cortisol resulting from excess secretion of adrenocorticotropic hormone (ACTH) from an anterior pituitary corticotroph adenoma. Clinical manifestations include diabetes, hypertension, osteoporosis, and depression. If untreated, CD has an increased mortality of five-fold owing to cardiovascular comorbidities, stroke or raised vulnerability to infection. Currently, transsphenoidal surg...

IntroductionDiabetic ketoacidosis (DKA) is associated with Type 1 diabetes mellitus (T1DM), whilst hyperglycemic hyperosmolar state (HHS) with Type 2 (T2DM). HHS has been well described as a presentation of T1DM in children, but not in adults. We present present a case of T1DM presenting in a young adult as HHS, with severe hyperglycemia but without acidosis.Case reportA 21 year old male presented with a 4 5 ...

Introduction: Hypocalcaemia is a biochemical abnormality noted in neonates and considered a possible side-effect of maternal MgSO4 administration. Suggested mechanism is maternal hypermagnesemia inhibits secretion of maternal parathyroid hormone, causing maternal and foetal/neonatal hypocalcaemia.Objectives: This study is aimed to identify common risk factors, presentation, biochemical abnormalities, severity, and any co...

Women with Turner Syndrome (TS) are at significantly increased risk of aortic dilation and dissection. However, predicting the risk of aortic dissection (AoD) is difficult with many women attending annual appointments with time, travel and parking costs and resource implications. We developed a risk-based pathway based on the international guidelines, enabling closer follow up for those with a greater risk and reduce the frequency of appointments for those at the least risk.</...

Background: Hypothalamic obesity (HO) is defined as rapid weight gain, hyperphagia and lack of satiety due to physical hypothalamic destruction. HO does not usually respond to lifestyle modification and no pharmacotherapies are specifically approved for treating HO. Efficacy of glucagon-like peptide-1 (GLP-1) agonists, which suppress appetite via hypothalamic satiety centres, is uncertain in HO.Case series: We commenced ...