Endocrine Abstracts

IntroductionHypercalcemia is a recognised feature of parathyroid and neoplastic disorders and similarly erythrocytosis is recognised in some benign and malignant neoplasm.Case reportA 71-year-old man presented to the admissions unit with an episode of collapse. No significant neurological or cardiovascular cause was identified. The results of his routine investigation revealed haemoglobin of 19.7g/dl and a ...

Radioiodine therapy (RAI) is widely used as definitive treatment for hyperthyroidism. Of the several regimes in use, we have used a standard 555 MBq dose of RAI to treat all patients with hyperthyroidism. Treatment is considered to have failed if patients remain hyperthyroid at 12 months and a repeat 555 MBq dose is administered. We have studied 584 consecutive patients for failure rate of RAI when it is used according to this regime (mean follow-up 3 years (range 1-10)). We h...

Introduction: Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant multi-glandular tumour syndrome, caused by RET germline mutations.We present a family with three affected generations identified by predictive testing.Index case and cohort details: A 40-year-old lady referred to ENT clinic with a swelling in the neck. Ultrasound confirmed multinodular goitre with FNAC-THY3. Diagnostic hemithyroidectomy was followed by total thyroidectomy f...

An 89-year-old female family physician presented to an orthopaedic surgeon with a short history of aches and pains. She was suspected to have vitamin D deficiency and was empirically prescribed three intramuscular injections of 6 million units of cholecalciferol at monthly intervals. A few days after the third dose she presented with nausea, generalised weakness, confusion and ataxia. She appeared drowsy and dehydrated. Vital parameters were normal and there were no focal neur...

A 45-year-old man presented with sudden onset left sided pleuritic chest pain and breathlessness. He was hypotensive and severely hypoxic and was admitted to the Intensive Care Unit. A chest X-ray was normal and an urgent computerised tomographic (CT) pulmonary angiogram showed the presence of extensive pulmonary emboli. The CT scan also showed bilateral adrenal “incidentalomas” with the right one being 8 cm and the left 6 cm in its longest dimension. He responded we...

Neuroendocrine tumours are uncommon and often present difficult therapeutic challenges. They may be composed of different cell types and are often multihormonal. We present the case of a 75 year-old man diagnosed to have a glucagonoma in 1995. He was deemed unfit for curative surgery and was managed medically including insulin therapy for control of hyperglycaemia. Over the next 7 years the patient became progressive more symptomatic due to increase in tumour size and hepatic ...

Candidate gene approaches have identified loss of heterozygosity (LOH) at putative tumour suppressor gene (TSG) loci in sporadic pituitary tumours. This study reports a high-resolution genome wide allelotyping in a large cohort of somatotrophinomas and non-functioning pituitary adenomas (NFA). Samples were first subjected to whole genome amplification by primer extension amplification (PEP) to circumvent limitation imposed by insufficient DNA for the whole genome analysis with...