Endocrine Abstracts

Congenital hypothyroidism (CH) occurs in approximately 1 in 3000 individuals. Rapid detection by neonatal screening and T4 administration is essential to prevent severe mental retardation and impaired growth. About one third of CH is due to mutations in known genes including the thyrotropin receptor (TSHR).Two Welsh male siblings with CH were detected, both had normally sized and located thyroid glands, no iodide uptake and were negative for thyroid bloc...

Introduction: Primary aldosteronism (PA) is the most frequent form of endocrine hypertension and is commonly caused by an aldosterone producing adenoma (APA). Germline and somatic mutations in the KCNJ5 gene have been found in up to 40% of APAs and demonstrated to play a crucial role in the pathophysiology of PA.Aim: Here we characterize and investigate the effects of the most common KCNJ5 mutations on cellular death mechanisms based on...

Background: The BRAFV600E mutation is the most common mutation in papillary thyroid carcinoma (PTC). Its presence has been associated with extrathyroid invasion, lymph node metastasis, and tumor recurrence. Recently, assessment of the BRAFV600E mutation status in patients with PTC has been used as a method to predict tumor aggressiveness.Objective: Our aim has been to analyze the prevalence of BRAFV60...

Currently in the UK children and young people with diabetes receive variable provision of care and support in educational settings. There are concerns that this impacts on the young person’s glycaemic control, their quality of life, and their educational performance and outcome. Whilst most paediatric diabetes teams provide training for school staff, it may take several days, even weeks, after diagnosis before a diabetes educator is able to attend the school to provide ed...

Disparities in the quality of care for patients with type 1 diabetes (T1D) undergoing transition from children’s to adult services are well recognised. Poor planning and ill-defined care pathways promote patient disengagement with many becoming ‘lost’ to specialist follow-up for years. This study sought to obtain the views of young people’s experiences of transition to identify perceived barriers to an effective and rewarding transition experience. A qualit...

Hypothyroidism and thyrotoxicosis have detrimental effects on skeletal development and adult bone strength. These effects result from thyroid hormone actions in bone, although a direct role for TSH in osteoblasts and osteoclasts was postulated following analysis of TSH receptor (TSHR) null mice. This hypothesis remains controversial as other studies failed to demonstrate osteoblast or osteoclast responses to TSH in vitro. Thyrostimulin is a heterodimeric glycoprotein ho...

Background: Lipocalin 2 (NGAL) is considered a pro-inflammatory adipokine. Noting the conflicting reports as to the role of Lipocalin 2 in metabolic disease, it remains unclear whether an acute or chronic state affects its impact on adipocyte function. In an attempt to address this our current studies investigated for the first time in humans, whether Lipocalin 2 in abdominal subcutaneous adipose tissue (AT) may influence mitochondrial function and browning of adipocytes, as c...

Background: In an obese state, pro-inflammatory adipokines can lead to mitochondrial dysfunction and reduced brown adipocytes properties in white adipocytes (BRITE adipocytes), all of which contribute to the pathogenesis of obesity and type 2 diabetes mellitus (T2DM). A recent novel adipokine, asprosin, that influences appetite and glucose homeostasis, appears to drive inflammation in obesity. However, asprosin expression in human adipose tissue (AT) depots, its impact on mito...

Background: Growth hormone insensitivity (GHI) is a continuum defined by normal/elevated growth hormone (GH), low IGF-I levels and growth restriction. Non-classical/mild-moderate GHI is poorly characterised and is frequently underdiagnosed. Heterozygous dominant negative (DN) gene variants located in the regions encoding the intracellular/transmembrane domains of the GH receptor cause a ‘non-classical’ GHI phenotype.Hypothesis/Objective: Detail...

The introduction of immune checkpoint inhibitors (ICIs) in clinical management of cancer has had an undeniable impact in management of cancer patients. Currently there are several ICIs are used across Europe including but not limited to, pembrolizumab, atezolizumab, and ipilimumab. Even though their clinical efficacy is reputable, they have the potential of causing serious immunotherapy-related adverse events’ (irADRs) in several organ systems including endocrine organs. ...