Endocrine Abstracts

A 68-year-old woman presented with a several month history of nausea, confusion and generalised weakness. In addition, she reported decreased appetite with significant weight loss. She did not report any convulsions, abdominal pain, palpitations, or diarrhoea. Significant past medical history included well-controlled T2DM, hypertension, vitamin D deficiency and GI reflux disease. Importantly, she had no history of renal disease. Relevant medications incl...

We present a case of a 56 year-old man diagnosed with systemic mastocytosis by the dermatologists on presentation with classical skin lesions, confirmatory bone marrow biopsy and a tryptase level 105 ug/L (NR 2-14). Further genetic testing confirmed KIT D816V mutation. DEXA bone densitometry at diagnosis revealed marked osteoporosis (Lumbar T score -3.7 (Z -3.5), Femoral Neck T score of -2.0 (Z -1.1). He had no history of low trauma fracture and no relev...

Introduction: Neuropsychiatric manifestations are well recognised in patients with primary hyperparathyroidism (PHP). Abnormal calcium channel physiology has been implicated in several pain disorders. The psychopathology emerges after prolonged subclinical hypercalcemia, but there is poor correlation with symptom severity. We report the complex management of two adolescents with PHP, secondary to parathyroid adenoma (no predisposing germline mutation identified), with persiste...

Introduction The endocrine assessment of children with Duchenne muscular dystrophy (DMD) can be necessary for management of osteoporosis, delayed puberty, obesity, adrenal insufficiency, and short stature. With ongoing implementation of the international standards of care for DMD, referrals to our Metabolic Bone Clinic (MBC) increased beyond its capacity, impacting patient care. The neuromuscular and endocrine departments implemented a new referral pathway and Multidis...

Oncogenic ostemalacia is a rare paraneoplastic syndrome characterised by renal phosphate wasting secondary to secretion of FGF-23 from mesenchymal tumours. Localisation of the tumour is wanted, as resection can lead to complete clinical and biochemical cure. We present a case of a 57 year old woman with a background of Vitamin D deficiency and secondary hyperparathyroidism, who presented with severe generalised aches and pain, worst in her ribs and thighs, such that she could ...

Background: Infertility affects 1 in 6 couples causing devastating psychological impact. In vitro fertilisation (IVF) treatment can aid couples to conceive, but personalisation of treatment is needed to optimise patient outcomes. Machine learning can aid in the analysis of large complex datasets such as those encountered during IVF treatment. One example is in determining the optimal follicle size on the day of trigger to maximise the number of oocytes collected. Both follicle...

Introduction: Glucagonomas are rare functional pancreatic neuroendocrine tumours (p NETs), with an annual occurrence of 0.01 to 0.1 new cases per 100,000. Objective: We focused on presenting symptoms, primary’s size and location, presence of metastases, biomarkers at diagnosis, histology, response to first line treatment (clinical and biochemical), disease fee survival (DFS) and PFS (progression free survival). Methods: Eighteen pa...

Olfactory neuroblastoma (ONB) is a rare neuroendocrine tumour with a slow onset of symptoms, and classically a propensity for recurrence and a poor prognosis. Due to its rarity, there is no agreed standard therapy, but treatment will usually include surgical resection, adjuvant radiotherapy and/or chemotherapy. However, such tumours very often show positive uptake on somatostatin receptor radionuclide scanning, and selective use of peptide receptor radionuclide therapy (PRRT) ...

Background: Non-alcoholic fatty liver disease (NAFLD) is a common comorbidity in obese individuals. GLP-1 agonists, such as semaglutide, and SGLT-2 inhibitors, such as empagliflozin, are well known to be beneficial in NAFLD, while other incretins, like peptide tyrosine tyrosine 3-36 (PYY3-36), might be also useful for the treatment of NAFLD. We directly compared the effects of semaglutide alone and in combination with peptide tyrosine tyrosine 3-36 (PYY3-36), empagliflozin and...

Objective: Vaccination against coronavirus disease 2019 (COVID-19) an important component of coping with the pandemic. Anecdotal cases and case series reported an association between COVID-19 vaccination and the development of Graves’ disease. We used data from Israel’s largest health care organization to determine whether COVID-19 vaccination was associated with the incidence of Graves’ disease.Methods: We analyzed data from Clalit Health...