Endocrine Abstracts

Heterozygous mutations in the transcription factor, hepatocyte nuclear factor 1b (HNF1B), result in multisystem disease including diabetes due to beta-cell dysfunction and pancreatic hypoplasia. However, the mechanisms that underlie development of diabetes in HNF1B mutation carriers are still not fully understood due to lack of an appropriate animal model system. Human pluripotent stem cells (PSCs), which are capable of self-renewal and can differentiate into any cell type, ar...

Method: We carried out a retrospective audit of baseline data for patients under our care with primary hyperparathyroidism on cinacalcet therapy, against the NHS England Clinical Commissioning Policy (July 2016). Patients with secondary hypercalcaemia due to end stage renal failure were excluded.Results: 40 patients were identified, 9 men and 31 women, with an age range of 32–89 years (median age 78). 3 patients were under 50 ...

Method: We carried out a retrospective audit of baseline data for patients under our care with primary hyperparathyroidism on cinacalcet therapy, against the NHS England Clinical Commissioning Policy (July 2016). Patients with secondary hypercalcaemia due to end stage renal failure were excluded.Results: 40 patients were identified, 9 men and 31 women, with an age range of 32–89 years (median age 78). 3 patients were under 50 ...

Background: Numerous studies have reported the role of the N-terminal of pro-opiomelanocortin (N-POMC1-76) and its smaller fragments; 1-28 and 1-49, in adrenal steroidogenesis and mitogenesis. A full understanding of this area will help to understand the pathophysiology of certain adrenal tumours but exactly how these peptides elicit this effect is unclear. We have recently identified an orphan G protein-coupled receptor (GPCR) as a possible N-POMC receptor. Preliminary data s...

Ageing is associated with decline in mitochondrial function whereby dysregulation in carnitine metabolism is highly correlated to poor ageing phenotypes. L-Carnitine transports activated long-chain fatty-acids (FAs) across mitochondrial membranes for β-oxidation and energy production. It is hypothesised that accumulation of long-chain FAs within cells is related to disordered transportation and reflects lower cellular energy upon ageing. Our global aim is to determine the...

Background: Iatrogenic adrenal insufficiency (AI) refers to primary, secondary, or tertiary hypoadrenalism associated with drug administration, surgery, or irradiation. The most common cause of secondary adrenal insufficiency is exogenous glucocorticoids. Hepatic metabolism of inhaled corticosteroids (ICS) takes place via cytochrome P450 3A4. Nevertheless, it can be decreased by enzyme inhibitors such as itraconazole or ritonavir, thus leading to an increase in the bioavailabi...

Case history: We present a 61-year-old male with a background history of 47 XYY syndrome who was referred to the endocrine outpatient service with abnormal thyroid function tests. He has mild learning disabilities, asthma, action tremor, erectile dysfunction, and type 2 diabetes. He was tall in stature with obvious clinodactyly. He had been evaluated for his tremor by our Neurology colleagues. Investigations: His blood tests results were as follow- TSH 5...

Section 1: Case history: An 18 year old young man with a background of several years’ ADHD (Attention Deficit Hyperactivity Disorder) and moderate learning disability presented generally unwell, with recent weight loss, abdominal pain, vomiting and poor oral intake in May 2019. He had been unsettled for some time with his mother convinced that his current condition warranted further investigation. When blood tests were done, severe hyponatraemia and hyperkalaemia were fou...

Case history: A 30 years old male Caucasian had his saliva tested on a self-funded commercial DNA testing to identify his ancestral roots. The markers for Y chromosome were found to be absent and further evaluation revealed him to have 46 XX karyotype.This was consistent with the diagnosis of De la Chapelle syndrome or XX male syndrome. Fluorescence in situ hybridization (FISH) studies confirmed the presence of SRY (sex determining region Y) gene which was responsible...

: The management of endogenous subclinical hyperthyroidism is largely guided by perceived risk, including the presence of cardiovascular disease, atrial fibrillation or osteoporosis. We have utilised a fourth-generation TSH assay, providing a 10-fold increase in sensitivity compared to third-generation assays, to determine whether patients with subclinical hyperthyroidism can be differentiated from those with overt hyperthyroidism, based on their now measurable TSH levels. Two...