Endocrine Abstracts

Common non-specific symptoms like fatigue can occasionally point towards a rare significant pathology. We report a similar case in which investigations for subtle symptoms revealed a serious unexpected diagnosis. A 76 year-old man presented to his GP for new onset mild fatigue. He had an underlying prostate cancer with no known metastases, treated only with hormonal therapy. This was under surveillance with urology team. GP sent off blood tests which showed a very low random s...

A pituitary hormonal profile and MRI pituitary was requested revealing eupituitary hormonal status with an incidental finding of 4 mm microadenoma. The case was discussed in local MDT and the outcome was to continue conservative management of PHPTH with cinacalcet until pheochromocytoma has been ruled out completely. Both MEN-1 and MEN-2 are associated with PHPTH. If a patient is having episodic adrenergic crises with inconclusive metanephrines analysis then excluding pheochro...

Introduction: Chronic kidney disease (CKD) is characterised by an ongoing reduction in kidney function and is associated with comorbidities such as muscle wasting that greatly increase mortality. Both acidosis and elevated glucocorticoids levels are hallmarks of CKD and implicated as having a synergistic role in driving muscle wasting. We investigated the synergistic effects of acidosis and the glucocorticoid cortisol on muscle metabolism and fibre size using ...

Case history: A 32 year old female was admitted for an elective gynaecological procedure LLETZ (large loop excision of the transformation zone) under general anaesthesia as per patient”s request. An uncomplicated LLETZ procedure was performed. Post operatively, patient was found to be tachycardiac and had severe palpitations with nausea. She then reported that she had recently lost a significant amount of weight, had been suffering with anxiety, palpitations, and tremors ...

Background: The CRISPR/Cas9 genome-editing platform is a powerful technology to create genetically engineered cells and organisms. However, the success of CRISPR genome editing experiments is limited by the intracellular delivery and expression of Cas9 endonuclease protein and guide RNA (gRNA). Beta-tumour cells (βTC-6), derived from transgenic mice, exhibit glucose stimulated insulin secretion which makes them a valuable tool in understanding the mechanisms that regulate...

Background: Congenital Hyperinsulinism (CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition. Defects in the HADH gene are responsible for SCHAD-HI, a rare form of the disease caused by the disruptio...

Muscle wasting is a common feature of inflammatory myopathies. Glucocorticoids (GCs), whilst effective at suppressing inflammation and inflammatory muscle loss, also cause myopathy with prolonged administration. 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) is a bidirectional GC activating enzyme, potently up-regulated by inflammation within mesenchymal derived tissues. We assessed the regulation of this enzyme with inflammation in muscle and examined its functi...

Adrenoleukodystrophy (ALD) is an X-linked, widely heterogeneous, neurodegenerative disorder of peroxisomal metabolism characterised by the accumulation of very-long-chain fatty acids (VLCFA). A mutation in the ABCD1 gene is responsible. ALD has both a neurological and an endocrine interface as VLCFA deposit in the central and peripheral nervous system as well as the adrenal cortex and testis. ALD can present in childhood with a cerebral form or later in life as an adrenomyelon...

Case report: A 13-year-old male presented with a 10-day history of vomiting. He was haemodynamically stable. His biochemistry was evaluated revealing a sodium level of 96 mmol/l. He had been seen 2 years previously with short stature. Sodium was normal at this time. He had speech and language delay, learning difficulties and was under investigation for autism. He had reportedly salt craved for years. Potassium, urea, creatinine, and glucose were normal throughout the admission...

Background: Children with hyperinsulinaemic hypoglycaemia (HH) are at a high risk of brain injury, while children with ketotic hypoglycaemia (KH) are believed to be neurologically normal. Hippocampus is known to be susceptible to hypoglycaemia, and is one of the key structures in the memory system. Our objective was to ascertain if children with HH sustain greater hippocampal injury and memory deficits in comparison to children with KH.Methods: Twenty on...