Endocrine Abstracts

A 48-year-old woman was referred for ACTH-independent Cushing’s syndrome associated with a left adrenal tumor. Contrasting with hypercortisolism-related hypertension and hypokalemia, renin and aldosterone levels were paradoxically increased. The tumor was surgically removed and pathological examination of the tissue established the diagnosis of corticosurrenaloma. Fragments of the tumor were obtained for in situ hybridization, immunohistochemical and cell incubatio...

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause of severe hypoglycaemia in children. CHI arises from mutations in ion channel genes (ABCC8/KCNJ11), which lead to inappropriate insulin secretion. CHI is also associated with increased cell proliferation and altered islet cell development. The aim of this study was to investigate the composition of the islet capsule in CHI and to relate this to the organisation of islet cells.</p...

Background: Congenital Hyperinsulinism in Infancy (CHI) is characterised by inappropriate insulin release from islet β-cells. We currently attribute hypoglycaemia to β-cell dysfunction because of defects in the ion channel genes ABCC8 or KCNJ11. However, the CHI pancreas is also associated with the inappropriate expression of foetal-like transcription factors and enhanced cell proliferation. We hypothesised that islet cell differentiation and neogen...

Background: The mechanisms responsible for inappropriate insulin release from β-cells in Congenital Hyperinsulinism in Infancy (CHI) have largely focused upon defects in KATP channels. Little is known about insulin biogenesis, the profiles of insulin in insulin-containing secretory granules or whether the impact of KATP channel defects (due to mutations in ABCC8 or KCNJ11) is the same in diffuse- and focal disease.<p class="abst...

Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function calcium-sensing receptor gene (CASR ) variants, is characterized by low parathyroid hormone (PTH) levels, hypocalcemia, hypercalciuria, hyperphosphatemia and hypomagnesemia. Conventional therapy (calcium and active vitamin D) can exacerbate hypercalciuria, which may result in renal complications. Calcilytics that act as negative allosteric modulators of the calcium-sensing receptor (CaSR), like ...

Introduction: Diabetes mellitus is a risk factor for micro-macrovascular complications and increases the risk of hospitalization, and adverse events. Early detection of impending deterioration can prompt interventions and prevent adverse events. Early warning systems (EWS) combined with rapid response teams can mitigate adverse events in the hospital setting. Machine learning-based EWS can use electronic health record data and automatically alert the care team with enough time...

Most thyroid nodules are benign and majority do not require treatment, except for those large nodules that cause symptoms (compression, hormonal dysfunction and/or esthetic problems). Microwave ablation (MWA) is an attractive therapeutic option because it is minimally invasive, relatively inexpensive, capable of providing coagulative necrosis, and has a short treatment time. In the following, we present the experience of our hospital.Objective: To evalua...

Introduction: Medullary thyroid carcinoma may be associated with Multiple Endocrine Neoplasia type 2 (MEN2), resulting from germline mutations in the RET proto-oncogene.Objective: We aimed to describe the molecular epidemiology of the pathogenic variants V804M and V804L of the RET gene through genetic population structure analysis.Materials and Methods: We investigated molecular data from patients with MEN2A caused by RET mutation ...

Merkel cell carcinoma (MCC) is a high grade cutaneous neuroendocrine tumour. They are a rare and often aggressive form of skin cancer, with increasing incidence in the elderly. MCC often presents as a firm, red/purple – coloured painless nodule with a short, aggressive history of increasing size. Wide local excision recommends 1-2cm margins, and deep clearance beyond that usually advised for keratinocytic skin cancers, but can have major cosmetic and functional implicatio...

Introduction: Many patients who present with symptoms of possible neuroendocrine tumour, start their journey with cross sectional scans to look for malignancy as part of their diagnostic workup. Often, especially with advances in functional imaging, subtle abnormalities are now visible causing diagnostic challenges. Our case details one such potential pitfall and acts as a reminder to consider broad imaging differentials when reviewing patients scans.Cas...