Endocrine Abstracts

A 70-year-old female presented with general lethargy and a two day history of painful muscle twitching and paraesthesia in her right hand. No other symptoms were reported. Past medical history included hypertension, hypothyroidism and she had recently been diagnosed with Type 2 diabetes. Examination was unremarkable.The overall biochemical picture was that of a hypokalaemic alkalosis with hypocalcaemia and hyperglycaemia: Na+140 mmol/l, K...

Background: Mild autonomous cortisol secretion (MACS) is a common finding in patients who have an adrenal incidentaloma (AI). Evidence suggests patients with MACS are at risk of cardiovascular morbidity, but there is not yet a consensus on the management of this cohort. Our study assesses the cardiovascular risk of patients with MACS, compared to patients with non-functioning AIs.Methods: Data were collected retrospectiv...

We report the case of a 63-year-old lady with refractory hypocalcaemia due to surgical hypoparathyroidism, decompensated by malabsorption following gastric bypass, successfully treated with recombinant human parathyroid hormone 1-84 (rhPTH), Natpar. She initially presented with medullary thyroid cancer aged 33 and was found to have MEN2A. She underwent thyroidectomy and developed post-surgical hypoparathyroidism. She was managed for over 20 years with alfacalcidol and oral cal...

Background: Overnight dexamethasone suppression tests (ONDST) are conducted to investigate patients with symptoms suggestive of cortisol hypersecretion or if an adrenal incidentaloma is identified. Cortisol levels of 50 nmol/l and above following ONDST may be related to autonomous cortisol secretion (ACS) and require further investigation. Determining likely presence of ACS is essential given reported associations with type 2 diabetes mellitus (T2DM), obesity, cardiovascular d...

Background: Patients with adrenal incidentaloma (AI) and cortisol levels of 50-138 nmol/l on overnight dexamethasone suppression tests (ONDST) may have “mild autonomous cortisol secretion” (MACS). MACS is associated with increased morbidity, including osteoporosis, but this is infrequently systematically evaluated. We compared fracture risk and fracture prevalence in patients with AI, both with and without MACS.Methods: Data were collected retr...

Background: Adrenal incidentalomas are common and require investigation to exclude malignancy and evidence of hormone overproduction. Prospective screening programmes are essential for early detection of cancer but often lead to incidental findings which have potential health economic implications and may increase patient anxiety. With regards to investigation of incidental adrenal nodules, current national lung cancer screening recommendations are not in keeping with current ...

Background: Hypoparathyroidism is a rare endocrine disorder characterised by low serum calcium with inappropriately low parathyroid hormone (PTH) levels. Calcium and vitamin D analogues have traditionally been the mainstay of treatment. However, these treatments may cause complications and may not fully address the well-being of this patient group. This study evaluates the current management of hypoparathyroidism in a large UK teaching hospital compared against current Europea...

Background: Symptoms consistent with hypercalcaemia are an indication for surgery in patients with primary hyperparathyroidism (PHPT). However, symptoms can be subtle and may not be documented systematically. We analysed the documentation of symptoms in a large series of patients with PHPT, and the subsequent impact of introducing a symptom scoring questionnaire.Methods: A standardised proforma was used to retrospectively analyse symptom documentation by...

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder. However, a familial hyperparathyroid syndrome is diagnosed in less than 5% of cases. We present two related cases of CDC73-related familial hyperparathyroidism due to a rarely described germline Leu63Pro missense mutation in CDC73 exon 2.Case report: The index patient, a 24-year-old female, presented acutely unwell with symptoms of hypercalcaemia. Her blood...

A nineteen year old man was admitted by his GP with profound weight loss. He had avoided contact with primary care services as he feared doctors, but had been referred to an eating disorders clinic. He had a diet of exclusively snack food and had been losing weight for two years.On examination he was cachectic and pale with scanty body hair. His body mass index was 13 kg/m2, with a weight of 44 kg. He was clinically thyrotoxic, a small diffuse...