Endocrine Abstracts

This gentleman originally presented at the age of 60 years old with slurred speech, confusion and cerebellar signs and was found to have raised calcium and PTH. His sisters, son and daughter were known to have hyperparathyroid-jaw tumour syndrome (HPT-JT) due to a novel germline Leu63Pro missense mutation in CDC73 exon 2. An MRI brain identified cerebellar lesions and he had positive voltage gated potassium channels; both of indeterminate aetiology follo...

This gentleman originally presented at the age of 60 years old with slurred speech, confusion and cerebellar signs and was found to have raised calcium and PTH. His sisters, son and daughter were known to have hyperparathyroid-jaw tumour syndrome (HPT-JT) due to a novel germline Leu63Pro missense mutation in CDC73 exon 2. An MRI brain identified cerebellar lesions and he had positive voltage gated potassium channels; both of indeterminate aetiology follo...

Case History: A 37 year-old gentlemen was referred to metabolic bone clinic due to recurrent recent fragility fractures. He had several fractures throughout childhood, and these had continued to occur into his adult life. He was blind in his left eye since birth. He felt that this had contributed to his fractures, due to falls. There had been no other previous major health problems. His brother had a similar eye condition. There were no other risk factors for osteoporosis. The...

Case History: A 37-year-old gentlemen was referred to metabolic bone clinic due to recurrent recent fragility fractures. He had suffered several fractures throughout childhood, and these had continued to occur into his adult life. He was blind since birth in his left eye. He felt that this had contributed to his fractures due to falls and other accidents. There had been no other major health problems in the past. His brother had a similar eye condition. There were no other ris...

Background: Prolonged, high dose glucocorticoid therapy is used in to treat a number of rheumatological diseases, including polymyalgia rheumatica (PMR), giant-cell arteritis (GCA) and large vessel vasculitis (LVV). However there can be significant consequences of long-term glucocorticoid use, including iatrogenic adrenal insufficiency, due to suppression of the hypothalamic-pituitary-adrenal axis. This study aims to evaluate the prevalence, investigation and recovery of iatro...

Introduction: Primary hyperaldosteronism (PA) can affect up to 10% of patients with hypertension. Adrenal vein sampling (AVS) is used to distinguish between unilateral and bilateral aldosterone production. However, it is invasive, technically challenging and is only performed in a limited number of centres. This audit aimed to evaluate the effectiveness of AVS in informing the management of PA in a large teaching hospital.Methods: A retrospective audit o...

We report the case of a 52 year old gentleman who presented to Primary Care with a short history of gynaecomastia, loss of libido and erectile dysfunction. He was normally fit and well, with no past medical history and no regular medications. Initial blood tests showed low testosterone (0.7 nmol/l (normal 11–28)) with inappropriately low gonadotrophins (LH 1.2iU/l (1.5–9.3), FSH <0.1 iU/l (1.4–18.1)). Other blood tests were unremarkable (TFTs, prolactin, FBC...

Background: Primary hyperparathyroidism (PHPT) is a common cause of hypercalcaemia seen in outpatient endocrinology clinic. Diagnosis is based on biochemistry and exclusion of other conditions, such as familial hypocalciuric hypercalcaemia. Symptomatic patients should usually be referred for parathyroidectomy. For asymptomatic patients there are clear guidelines for surgical referral, based on the Fourth International Workshop (2014) recommendations. This study evaluates curre...

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...