Endocrine Abstracts

Background: Existing biomarkers have limited ability to discriminate indolent non-functioning pituitary adenomas (NFPAs) from those with a propensity to recur following primary surgery. Radiomics, the extraction of quantitative data from medical imaging, is increasingly recognised as a tool to augment clinical decision making.Methods: 39 patients who underwent primary trans-sphenoidal surgery for an NFPA between January 2007 and April 2017, were enrolled...

Background: Sporadic non-functioning pituitary adenomas (NFPAs) are described as having quiet mutational landscapes. Genes with recurrent somatic alterations have not been identified by previous studies examining heterogeneous pituitary tumour populations. Existing biomarkers have limited ability to discriminate NFPAs with a predisposition for regrowth from those that will follow a more indolent course after primary surgery. We undertook somatic sequencing, in an enriched coho...

Introduction: We present two pregnant women who were referred to obstetric endocrinology service with polyuria and polydipsia. They were investigated and treated for diabetes insipidus (DI). In both cases, the underlying pathophysiology was ADH insufficiency secondary to autoimmune lymphocytic hypophysitis. There are currently no consensus guidelines on the diagnosis of DI during pregnancy. These cases highlight best practice and endorse MDT management of chronic hypopituitari...

Introduction: Hypothyroidism can present in a variety of ways, from unexpected abnormal blood results in seemingly asymptomatic patients to those with a multitude of debilitating symptoms. Levothyroxine dose titration is a challenge often faced by physicians. We identified 8 difficult cases which following MDT discussion underwent the Thyroxine Absorption Test (TAT) to gain further clarification (Walker et al. 2013).Aim: To identify if the issue...

Section 1&2: Case history and investigations: We report the case of a 52-year-old man with recurrent immunodeficiency-related Burkitt’s lymphoma. 11 years following remission of his disease he presented with a firm lump in the parotid region. A biopsy showed histopathological evidence of a relapse. An 18F FDG PET was undertaken to determine the extent of the disease and response to R-DHAX chemotherapy. Areas of high uptake were identified in both sides of t...

Section 1: Case history: A 30 year-old female patient with a background of symptomatic primary hyperparathyroidism diagnosed in 2008 and a history of two failed neck surgeries, was reviewed in clinic complaining of persistent symptoms of hypercalcaemia. Previous pre-operative neck imaging had failed to localise a parathyroid adenoma and the patient had undergone two neck explorations by an experienced ENT surgeon; one which removed thymic tissue and the other which removed a m...

Primary hyperparathyroidism (PHPT) is a common endocrine disorder with a prevalence of 0.86% in Europe. Approximately 10% of cases are hereditary. Syndromic PHPT occurs as part of multiple endocrine neoplasia (MEN)1, MEN4, MEN2A and hyperparathyroidism jaw tumour syndrome. Non-syndromic causes include familial hypocalciuric hypercalcaemia. Establishing the underlying genetic cause allows for targeted, cost effective management. Current guidelines recommend that genetic testing...

Background: 11C-Metomidate (MTO)-PET/CT has recently found utility as an alternative to adrenal vein sampling for lateralisation in primary aldosteronism. MTO binds with high affinity to 11b-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) and can be considered an adrenocortical-specific tracer. We and others have therefore hypothesised that combining MTO-PET/CT with 18F-FDG(FDG)-PET/CT would permit indeterminate adrenal lesions ...

Background: The enzyme succinate dehydrogenase (SDH) functions in the citric acid cycle and loss of function of this enzyme can lead to the development of phaeochromocytoma/paraganglioma (PPGL), gastrointestinal stromal tumour (GIST) and renal cell carcinoma. A germline mutation in one of the four genes (SDH-A/B/C/D) encoding the SDH complex is the most common mechanism of SDH inactivation causing SDH deficiency and is routinely screened for...

Case history: We present a 71 year old man, with a 3 year history of problematic hypertension (BP exceeding 190/100 on treatment), incidentally found to be hypokalaemic (K 1.8 mmol/l) during investigations for leg weakness. He had no clinical features to suggest an endocrinopathy. Investigations at his local centre revealed hypokalaemia dating back over 3 years.Investigations: Biochemistry:Na 142 mmol/l (135–145 mmol/l)<p ...