Endocrine Abstracts

Adrenal incidentalomas represent an increasingly common diagnostic problem facing clinical Endocrinologists. Swift and accurate differentiation of benign from malignant disease is essential, but the diagnostic performance of current imaging modalities is sub-optimal and often leads to ill-advised management decisions. Urinary steroid profiling by modern mass spectrometry-based techniques can provide a comprehensive profile of steroidogenesis, quantifying both precursor molecul...

Case history: A 46-year-old female patient presented to A&E with a three day history of diarrhoea and vomiting, after three months of progressive weight loss. Her past medical history included chronic autoimmune thrombocytopaenia and Graves’ disease, which had been diagnosed four years earlier and treated with a brief course of propylthyuracil (PTU). She was clinically in extremis, with signs of severe cardiovascular and respiratory compromise and reduced res...

A 67-year-old lady with a 3-year history of Graves’ hyperthyroidism complicated by florid Graves’ ophthalmopathy attended the thyroid clinic at University Hospital Birmingham for routine follow up. Her thyrotoxicosis had been managed with long-term carbimazole treatment with good control. Her past medical history included coeliac disease and hypertension. On clinic review, she appeared acutely confused and disorientated and had evidently lost weight. Her family repor...

New adrenal lesions discovered during cross-sectional abdominal imaging pose an increasingly common diagnostic challenge; their initial management should focus on the exclusion of malignancy and autonomous hormone excess. The role of adrenal biopsies in this context is limited and pathologists often struggle to differentiate benign from malignant adrenal tissue even when analysing the entire tumour specimen. Guidelines recommend that adrenal biopsy should only be considered if...

Context: Nicotinamide nucleotide transhydrogenase (NNT) is a NADPH-generating mitochondrial proton pump with a central role in mitochondrial antioxidant pathways. Recent studies revealed inactivating NNT mutations in patients with familial glucocorticoid deficiency, indicating a selective susceptibility of the adrenal cortex to NNT deficiency and oxidative stress. Here we explored the potential value of NNT as a therapeutic target in adrenocortical cancer.<p class="abstext...

Nicotinamide nucleotide transhydrogenase (NNT) is a highly conserved inner mitochondrial membrane protein, which supplies high concentrations of NADPH for detoxification of reactive oxygen species (ROS) by glutathione and thioredoxin pathways. In humans, loss-of-function mutations in NNT cause familial glucocorticoid deficiency, a potentially fatal, adrenal specific disorder characterized by increased levels of ACTH and low levels of cortisol. Nnt−...

Nicotinamide nucleotide transhydrogenase (NNT) is a NADPH-generating mitochondrial proton pump with a central role in mitochondrial antioxidant pathways. Recent studies revealed inactivating NNT mutations in patients with familial glucocorticoid deficiency, indicating a selective susceptibility of the adrenal cortex to NNT deficiency and oxidative stress. Here we explored the potential value of NNT as a therapeutic target in adrenocortical cancer. We delineated the distinct ef...

Introduction: Testicular leydig cell tumours (LCTs) are rare stromal tumors often associated with androgen excess. Metastatic malignant LCTs typically show resistance to radiotherapy and cytotoxic chemotherapy, calling for alternative management options. Here we describe our experience with treatment of two patients with metastatic LCTs with the adrenolytic drug Mitotane.Patients/methods: Case 1: A 51-year-old patient presented with a 6 month hi...

A 34-year-old male with no significant past medical history presented with severe abdominal pain. On detailed questioning his symptoms included tremors, headache, sweating, and agitation. Despite recent weight gain he had obvious muscle wasting. On admission blood pressure was 166/107 mmHg. Abdominal examination revealed a palpable left upper quadrant mass.CT scan demonstrated a 15 cm mass in the left supernal region with extensive signs of haemorrhage i...

Background: Adrenocortical carcinoma (ACC) is a rare aggressive cancer with limited treatment options for advanced stages. By targeted RNA expression screening, we identified polo-like kinase 1 (PLK1) as one of most overexpressed genes, thus representing a potential drug target for ACC. PLK1 inhibitors are under evaluation in clinical trials for other solid cancers and seem to be more effective in TP53 mutated tumours. The aim of the study was to evaluate PLK1 protein levels i...