Endocrine Abstracts

Background: Bone toxicity and more specifically Radiotherapy Related Insufficiency Fractures (RRIFs) are common late effects of pelvic radiotherapy, associated with increased morbidity and reduced quality of life, while their cost to the health system is currently unknown. The mechanisms underlying RRIFs are not well understood. Effective preventive techniques and management pathways need to be developed and validated with robust clinical and health economic analyses. The RadB...

Prohormone convertase 1/3 (PC1/3), encoded by protein convertase subtilisin kexin type 1 (PCSK1), converts inactive prohormones such as pro-opiomelanocortin, proinsulin, proglucagon into biologically active peptides. Inherited genomic mutations of PCSK1 present with malabsorptive diarrhoea, hyperinsulinemic hypoglycaemia, central adrenal and thyroid defects and severe obesity. Somatic mutations of insulinomas are associated with genetic defects interfering with insulin secreti...

The usual management at our centre for patients awaiting phaeochromocytoma surgery involves pre-operative titration of alpha blockade with frequent clinic visits for blood pressure (BP) and heart rate (HR) monitoring. The COVID-19 pandemic restricted our ability to consult with patients frequently. To reduce infection risk, we incorporated virtual BP monitoring using a Microsoft Excel template coupled with regular remote consultations. We present a clinical case highlighting o...

Malignancy-related hypercalcaemia occurs in over 20% of cancer patients. Most cases are due to enhanced production of parathyroid hormone-related peptide (PTHrP) by tumours and carry a poor prognosis of survival of weeks to months. A 74 year old man with a history of prostate cancer treated with radical radiotherapy in 2013 and androgen blockade until 2015 underwent CT and PET/CT scans in 2017, which showed liver and spleen abnormalities, suggestive of metastases, but unlikely...

Case: A 25-year-old male with a history of Asperger’s syndrome, not on regular medication, with no family history of endocrinopathy; was referred with mild hypercalcaemia found during routine investigations for fatigue, weight loss, diarrhoea and vomiting. A normal PTH suggested PTH-dependent hypercalcaemia. There was no history of fractures or nephrolithiasis. DEXA scan showed normal bone mineral density (femur, spine and forearm). The gastrointestinal symptoms and fatig...

Background: Hypercalcemia in patients with advanced chronic liver disease (CLD) without hepatic neoplasia is a rarely reported and poorly understood entity. CLD is usually associated with hypocalcaemia because of hypoalbuminemia. Hypercalcemia on the other hand is extremely rare and needs meticulous ruling out of other causes.Case Report: A 55-year-old male who was admitted with jaundice, weight loss and hypercalcaemia. He had a calcium that peaked at 3....

Kennedy’s Disease (KD) or Spinal and Bulbar Muscle Atrophy is a rare X-linked recessive condition due to CAG repeat in the androgen receptor (AR) gene. KD affects males with unaffected female carriers. Reported prevalence in male populations is highly variable; recent data suggests 2.5 in 100,000 with region specific higher prevalence. KD manifests as androgen insensitivity (AI) with features including gynaecomastia and motor signs such as early tremor, facial an...

Case: A 69 year old man was diagnosed with poorly differentiated pancreatic adenocarcinoma with liver metastases in November 2017 and received FOLFIRINOX chemotherapy followed by Gemcitabine. This stabilised his disease and chemotherapy was stopped in March 2020. In April 2021 he presented with a 3-4 month history of tiredness; intermittent confusion, especially in the early morning; the discovery that food resolved his symptoms, albeit temporarily; and accompanying significan...

Introduction: There are patients who remain symptomatic with hypothyroidism despite apparent adequate replacement on levothyroxine (LT4) therapy. We present an observation where monozygotic twins responded only to combination therapy with liothyroinine (LT3), and were found to have a genetic variation which may have clinical significance in thyroid metabolism.Case report: A 47-year-old female with polyglandular auto-immune syndrome (APS1) presented with ...

A 50 year old Asian lady developed neck pain and sore throat 10 days after first dose of AstraZeneca COVID-19 vaccination. Her dentist thought she had tonsillitis. She then presented to hospital a few days later with dyspnoea, palpitations, tremor and neck pain. She was apyrexial but clinically thyrotoxic with sinus tachycardia. Thyroid gland had normal size with tenderness without bruit or lymphadenopathy. Her Free T4 was >100 pmol/l (11.2 - 20.2), TSH < 0.01mIU/l, ES...