Endocrine Abstracts

Graves' disease and type 1 diabetes frequently occur together and this would suggest that genetic susceptibility is due to common loci. The insulin (INS) gene region (IDDM2) on chromosome 11p15.5 is linked to, and associated with, type 1 diabetes and it has been suggested that it may be acting as a general autoimmunity locus. Susceptibility is conferred by the variable number of tandem repeats (VNTR); a polymorphic region situated 5' to the INS gene. The class I/I homozygote g...

Introduction: Pituitary adenomas, second most common brain tumors, are mostly well controlled after surgery. However, some pituitary tumors present an aggressive evolution and are resistant to standard management. Immunotherapy with inhibitors of T-cell checkpoints have shown durable efficacy in a variety of malignancies. Moreover, immunotherapy has been associated with treatment-related hypophysitis, suggesting that pituitary could be a target of these treatments. Recently, i...

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) worsens hypercalciuria, which may result in renal complications. Calcilytics, such as encaleret, are negative allosteric modulators of the calcium-sensing receptor (CaSR). T...

Endometriosis is a chronic oestrogen-dependent incurable inflammatory disorder, defined by the presence of endometrial-like tissue outside the uterine cavity that affects 6–10% of women of reproductive age. It is associated with debilitating pelvic pain and subfertility with a significant impact on quality of life and estimated annual costs to the UK of £11.7 billion. Recent findings from our laboratory have shown that there is a shift in cell metabolism from mitocho...

Objectives: Children and young people (CYP) with Type 1 Diabetes Mellitus (T1DM) are at risk of acute clinical emergencies. Wearing medical identification (ID) is recommended by the National Institute for Clinical excellence (NICE). Information on adherence to this recommendation in CYP with T1DM is scarce. This study aimed to assess parent and CYP’s knowledge of the recommendation, to explore adherence and barriers to carrying ID and understand preferred forms of ID....

Background: For patients in an adrenal crisis, the timely administration of parenteral hydrocortisone can be life-saving. Data from the Addison’s Disease Self-Help Group found that a large proportion of adrenal crises occur out of hospital, with many patients relying on the emergency services for initial parenteral hydrocortisone administration. Despite regular patient education (including parenteral hydrocortisone self-administration) and recommendations to wear steroid...

The National Paediatric Diabetes Audit 2021 uncovered widening disparity in the utilisation of diabetes technologies among children and young people (CYP) with type 1 diabetes from ethnic minorities and low socioeconomic groups. Our data revealed that only 27.5% of CYP from ethnic minorities were using insulin pump therapy, compared to 50% from a white background. Unfortunately, our current staffing levels and available resources were inadequate to address this issue effective...

Background and Aim: Congenital growth hormone deficiency (cGHD) is a rare but life-threatening condition whose diagnosis is challenging in the absence of reliable reference values, both in healthy neonates and in preterm ones. We recently estimated GH reference interval in 1036 healthy, at-term newborns (HN) form dried blood spot samples using a previously validated analytical method. Aim of this study is to provide values for random GH in preterm newborns (PN).<p class="a...

Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CaSR, gene: CASR) and is characterized by hypocalcemia, hyperphosphatemia, low parathyroid hormone (PTH), and hypercalciuria. Calcilytics (negative allosteric modulators of the CaSR) decrease the sensitivity of activated receptors to extracellular calcium and normalize blood and urine abnormalities in ADH1 rodent models. Encaleret is an oral calcilytic u...

Introduction: Artificial pancreas systems (APS) have improved glycaemic control in adult and paediatric patients in clinical trials as part of routine clinical careAim and objectives: To evaluate the effectiveness of artificial pancreas system in routine clinical care on glycaemic control over a period of three to six months. Changes in glycated haemoglobin (HbA1c), time in range (TIR, 3.9-10 mmol/l) and time below range (TBR, <3.9 mmol/l) were asses...