Endocrine Abstracts

Introduction: Advances in the understanding of the natural history and genetics of phaechromocytomas and paragangliomas have altered the demographics of these conditions resulting in much higher rates of malignancy and association with known genetic abnormalities.Objective: To analyse the clinical and biochemical features of hereditary (H) and sporadic (S) phaeochromocytomas and paragangliomas.Design: Retrospective case-series at G...

Pathogenic variants in the SDHx genes are responsible for ~20% of familial Phaeochromocytoma/Paraganglioma (PPGL) tumours. Metastatic disease is lower in SDHD in comparison to SDHA, B and C mutations. Although the genotype-phenotype relationship is not well established it is considered that truncating SDHD pathogenic variants have a higher risk of causing disease in comparison to missense variants. We present two cases of metastatic paraganglioma in patients with heterozygous ...

68 years old female initially referred to endocrine clinic in November 2016 for assessment of fluctuating thyroid function. She had a history of long standing primary hypothyroidism, stable on treatment with 100 mcg Levothyroxine. In last one year, Levothyroxine was tapered and stopped due to persistent suppression of TSH and high normal Free T4. Last tests showed TSH of <0.01mIU/l and Free T4 of 27.1 pmol/l. She had ongoing complaints of feeling increasingly tired and gen...

A 50-year-old female with complex chronic hypoxic congenital heart disease was incidentally identified with a 2 cm extra-vesicular nodule of the bladder during a surveillance ultrasound scan. Suspicious of a bladder carcinoma she uneventfully underwent open partial cystectomy. Histology confirmed a bladder paraganglioma with local lymph node invasion. Post-operative biochemical work-up disclosed raised plasma metanephrine”s: normetadrenaline 7073 pmol/l (120-1180 pmol/l),...

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominantly inherited condition predisposing to primary hyperparathyroidism (PHPT), pituitary tumors, gastroenteropancreatic tract neuroendocrine tumors (NET), thymic tumours and skin lesions. Clinical features are rare in the paediatric population and guidance exists on the screening for complications of MEN1.Objective: To describe clinical features and treatment outcomes in a sin...

A 71 year old gentleman, known to have Renal Cell Carcinoma with metastasis to lung, mediastinum, spine and liver, was transferred to our services for management of T2/T3 Spinal root impingement. On admission he was noted to have severe hypercalcemia of 3.33mmol/l, mild hypophosphatemia 0.8mmol/land an ongoing acute kidney injury. He had appropriate initial management with intravenous fluids, and was started on dexamethasone 8 mg with PPI cover for the spinal metastasis. His i...

Introduction: Checkpoint inhibitor (CPI) related endocrine toxicities are increasingly commonly with the use of these new cancer agents. With one of the largest cancer departments in UK, we studied the clinical management and outcome of patients who developed different endocrine toxicities over the last five years, with the use of CTLA-4, PD-1 and PDL-1 agents.Methods: All patients treated with CPI between 1 Jan 2014 to 31 Jan 2019 were included for the ...

Aim: Anti-thyroid treatment with carbimazole or propylthiouracil is the first-line treatment for autoimmune thyrotoxicosis in the UK. Following 12–18 months treatment there is a significant relapse rate (at least 50%). This study analysed the demographics and clinical features of 100 patients with relapsed thyrotoxicosis to examine which variables are predictive of relapse.Methods: This retrospective study included adult patients identified using ou...

Introduction: Immunotherapy has become standard treatment for an increasingly wide range of cancers. Checkpoint inhibitors (ICT; CTLA4, PD1 & PD-L-1) can cause endocrine toxicity, principally affecting the pituitary and thyroid glands. We have studied the clinical management and outcome of patients with endocrine adverse effects over 5 years at our cancer centre.Methods: All patients treated with ICT agents between 1 Jan 2014 to 31 Jan 2019 were incl...

Introduction: Immune checkpoint therapies are novel cancer agents, which have been associated with the development of endocrine toxicities. ESMO and SfE endorsed management guidelines have been helpful for the early recognition of these toxicities, but in clinical practice, having early access to specialist endocrine advice improves the decision making and effective use of these agents when toxicities occur. In response to need we developed an easily accessible interdisciplina...