Endocrine Abstracts

Familial hypocalciuric hypercalcaemia (FHH) is an inherited disorder of calcium homeostasis, which is caused by germline loss-of-function mutations of the calcium-sensing receptor (CaSR) in ˜70% of cases. We report a 22 year old woman who was referred with asymptomatic hypercalcaemia. Biochemical investigations revealed hypercalcaemia on 3 of 4 occasions with adjusted serum calcium ranging from 2.59–2.80 mmol/l (normal range 2.20–2.60 mmol/l). Parathyroid hormon...

Background: Benign cortical and medullary tumours, adrenocortical cancers (ACC), bilateral adrenal hyperplasia, adrenomyelolipomas and metastases are commonly discussed in the differential diagnosis of a tumour in the adrenal bed. This study reports a series of non-adrenal tumours encountered during surgery for expected adrenal tumours.Method: Retrospective review of surgical practice in a tertiary referral centre.Results: Between ...

Background: The phaeochromocytoma of the adrenal gland scaled score (PASS) is used for histological reporting of phaeochromocytomas as a surrogate marker of malignant potential. A PASS score of ≥4 (of a maximum of 20) suggests an aggressive tumour and hence the importance of lifelong careful follow-up. However, the utility of the PASS score has been questioned recently due to the discordance between PASS score and clinical outcomes.Aim: To review t...

Introduction: Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous type of diabetes mellitus, characterized by early onset (often before 25 years of age) and absence of pancreatic autoimmunity markers.Case: We report a 20 years old female diagnosed with type 1 diabetes at age 18, with positive glutamic acid decarboxylase antibodies and low C peptide level. She had no history of diabetic ketoacidosis or hypoglycemia. H...

Introduction: Primary hyperparathyroidism (PHPT) is associated with adverse effects especially on the bones and kidney. While nowadays it is mostly diagnosed at an asymptomatic stage, patients with overt involvement of the target organs at the time of diagnosis are still encountered.Aim: To explore the frequency of disease complications already present at the time of diagnosis in a cohort of patients with sporadic PHPT who meet the current surgical guide...

Background: A large body of evidences have demonstrated that metabolic surgery is associated with significant and durable weight loss as well as a significant improvement of obesity-related comorbidities. The aim of our study was to evaluate the long term impact of gastric sleeve on metabolic parameters in morbidly obese patients.Materials and methods: We evaluated 95 (67 women) severely obese patients (mean age 43.4±10.69 years) before and approxim...

Background: Adipose tissue blood flow (ATBF) is important for delivering nutrients and oxygen to adipose tissue (AT), and distributing adipokines and metabolites into the circulation. ATBF has been measured with the 133Xenon wash-out technique (gold standard), microdialysis, laser Doppler Fluximetry, and contrast-enhanced ultrasound. However, due to decline in world-wide 133Xenon production and the invasive nature of other techniques, an alternative metho...

Background: Over the past decade there has been increased recognition of the dangers associated with inpatient management of diabetes insipidus (DI) and omission of desmopressin leading to hypernatremia. In May 2009 a patient died from diabetes insipidus mismanagement in a London hospital. An NHS England patient safety alert was issued in 2016 highlighting this risk.Method: Inpatients with a serum sodium of 155 mmol/l or greater were prospectively identi...

Introduction: The FreeStyle Libre is increasingly employed in the management of T1DM. This audit examined if users are meeting the recommended competencies set out in the London prescribing guidelines, to ascertain if users are aware of and utilising inbuilt features of the Libre, to identify if user training can be enhanced, and to see if Libre use improves patients’ quality of life as a result of Libre use.Methods: The audit was conducted via a st...

Background: Graves disease is the most common cause of hyperthyroidism or thyrotoxicosis in children. The prevalance is 1 in 10 000 among children. It is important to reinforce the awareness amongst clinicians as patients can present with wide range of clinical symptoms. The range of presentations in our study included a child treated for one year for Attention Deficit Hyperactivity Disorder (ADHD) to a child who had diarrhoea and abdominal pain and presented as appendicitis i...