Endocrine Abstracts

Introduction: Erdheim-Chester disease is a rare form of non-Langerhans’ cell histiocytosis characterised by foamy histiocyte infiltration with multi-systemic manifestations. Roughly 550 cases have been described in the literature, most frequently affecting men aged 40-60. Bony pain is the most common symptom, resulting from osteosclerotic lesions of the long bones of the lower limbs. Extra-skeletal manifestations are varied and include diabetes insipidus resulting from pi...

Introduction: Graves’s disease is an autoimmune condition both cell and antibody-mediated, which is associated with thyrotoxicosis and extra thyroid features.Case report: A 35-year-old female presented with symptomatic hyperthyroidism due to graves thyrotoxicosis. She developed adverse reactions, including severe dermatitis and hepatotoxicity, to two of the thionamide drugs (carbimazole and propylthiouracil). Eventually we decided for definitive tre...

Familial Dysalbuminaemic Hyperthyroxinaemia (FDH) is characterised by mutant albumin with increased affinity for thyroxine, and to a lesser extent triiodothyronine, giving falsely elevated fT4 and fT3 levels in standard assays. This may lead to inappropriate management of euthyroid patients, and complicate diagnosis and management of thyroid disease in patients with coexistent FDH. We report a case of Graves’ thyrotoxicosis complicated by underlying FDH. A 41-year-old wom...

Introduction: Pseudo-Cushing’s syndromes are a heterogeneous group of disorders and include alcoholism, obesity, anorexia nervosa (AN), depression and intense physical exercise. These share biochemical features of Cushing’s syndrome (CS) causing ACTH-dependent hypercortisolism. Distorted body image is a prominent feature of eating disorders. We describe the case of patient with AN who was convinced she had CS. This led to investigations that confirmed hypercortisolis...

Pituitary carcinomas are extremely rare accounting for only 0.1%–0.2% of all pituitary tumours. The diagnosis is primarily dependent on aggressive imaging characteristics and high tumour mitotic activity on histology. A 47 year old gentleman with Type 1 Diabetes presented with an apparent non-functioning pituitary macro adenoma which was resected transsphenoidally and followed by EBRT. Initial histology was negative for ACTH. He presented 2 years later with florid Cushing...

Introduction: Primary testicular lymphoma is very rare and constitutes about 2% of all extra nodal lymphomas, mostly in men above the age of 60. Bilateral adrenal masses could be due to metastatic disease, congenital adrenal hyperplasia, bilateral macro-nodular hyperplasia, adrenal adenomas, lymphomas, infiltrative diseases, amyloidosis and infections like tuberculosis. Metastasis occurs most commonly from lung, bowel, breast and pancreatic cancer. Metastasis from lymphomas is...

Anaplastic carcinoma accounts for <5% of thyroid cancer. The simultaneous occurrence of anaplastic carcinoma (ATC) and Graves’s thyrotoxicosis is extremely uncommon with only six cases described in the literature.A 73-year-old female presented with weight loss and atrial fibrillation. Investigations showed TSH-0.02 mU with T4-40 pmol/l and T3-16 pmol/l suggesting thyrotoxicosis.There was no thyromegaly or orbitopathy. TBII was elevated at 10.3 U...

Introduction: Hypothalamic–pituitary adrenal axis dysfunction is common in severely ill patients. Even slight impairment of adrenal response to severe illness can increase morbidity and mortality. Relative adrenal insufficiency has been associated with severe sepsis.Case report: We report a case of 48-year-old lady who was admitted with septic shock secondary to epiglottitis requiring intubation and intensive care. Short synacthen test performed in ...

Background: Resistance to thyroid hormone (RTH) is a rare autosomal dominant condition of altered tissue responsiveness to thyroid hormone (TH) characterised by elevated serum FT4 and FT3 and non-suppressed TSH levels caused by mutation in the thyroid receptor (TR) β gene. Different isoforms of TR are expressed in the heart and regulate genes that encode structural and regulatory proteins. The syndrome is characterised by a variable clinical phenotyp...

Paragangliomas are rare neuroendocrine tumours that originate from neural crest cells and can arise from any autonomic ganglion of the body. This is a challenging entity given the limited therapeutic options. Here, we present a rare case of metastatic Paraganglioma in a patient with a germline pathogenic succinate dehydrogenase subunit B (SDHB) mutation. A 54 year old lady was initially diagnosed with functioning bladder paraganglioma with raised metanephrine and norm...