Endocrine Abstracts

Background: Hypercalcaemia of malignancy (HCM) is the commonest metabolic complication of malignancies. However, this is relatively rare among patients with neuroendocrine tumors (NET). Management of HCM remains a challenge for clinicians, especially in cases of refractory hypercalcaemia.Case Report: A 37-year-old lady was referred to the NET service in June 2021 following the finding on imaging of a huge inoperable pancreatic mass with peritumoural vari...

Radiofrequency ablation (RFA) is a minimally invasive technique using thermogenesis to induce tissue necrosis. Initially used to treat hepatocellular carcinoma, RFA is now used to treat numerous conditions including thyroid nodules. We present the use of RFA in 3 individuals with thyroid disease attending our centre. A 31-year-old female presented with symptoms of hyperthyroidism. Her TSH <0.02mIU/l (0.27-4.2), Free T4 (FT4) 20.2 pmol/l (11.9-21.6) and Free T3 (FT3) 8.5 pm...

We describe a case of a women with Cushing’s syndrome and bilateral adrenal nodules who presented with symptoms and signs of Cushing’s syndrome that manifested during pregnancy which unfortunately ended in a miscarriage in first trimester. Investigations showed raised urinary cortisols, failure of suppression of cortisol with dexamethasone and suppressed ACTH. CT adrenals showed bilateral macronodular adrenal hyperplasia. Patients’s history suggested she had sim...

We present a case of a thirty year old female with a history of primary amenorrhoea due to hypogonadotropic hypogonadism (HH) who was further investigated as family history revealed a brother and sister with normosmic hypogonadotropic hypogonadism due to a homozygous pathogenic variant c.1195T>A in the KISS1 receptor gene. Our patient carried the same homozygous mutation, and both parents (unrelated) were heterozygous carriers. KISS1-receptor mutations are a rare cause of ...

Background: Although pheochromocytoma is feared for its acute life-threatening complications, in some patients the symptoms can be subtle. This leads to delayed diagnosis and chronic morbidity. We report 2 cases who presented with long history of major gastrointestinal manifestations related to a pheochromocytoma Case 1: A 51-year-old female had severe constipation for 12 years. No bowel pathology was identified on ultrasonography, colonoscopy, colonic transit studies and isot...

Heterozygous activating mutations of the KCNJ11 gene are the most common cause of permanent neonatal diabetes. High dose sulphonylurea (SU) therapy usually results in long-term glycaemic control. A 32-year-old woman presented at four weeks old with hyperglycaemia, ketonuria and acidosis. She was treated with insulin throughout childhood and adolescence. She was later diagnosed with a KCNJ11 mutation (R201H, c.601C>A). She successfully transitioned to SU o...