Endocrine Abstracts

Introduction: Primary, non-motile, cilia are microtubule-based organelles that protrude from the cell membrane into the extracellular environment of virtually all nucleated mammalian cells. They function as signalling platforms involved in the transduction of extracellular stimuli and have an important role in cell cycle regulation. Disruption of primary cilia structure and therefore function has been identified in a range of cancers including kidney, breast, pancreatic and pr...

Background: Patients taking hydrocortisone replacement for primary or secondary adrenal failure require individual adjustment of their dose. Previous observations in our department suggest that total serum cortisol levels achieved following an afternoon or evening dose of 5 mg hydrocortisone are almost as high as those that result from a 10 mg dose in the early morning; and that the ‘area under the cortisol curve’ (AUC) generated by an evening 5 mg dose is broader th...

Introduction: The investigation and management of large adrenal lesions varies widely. It is appropriate to have a low threshold for surgical removal of large adrenal lesions with the possible exception of stable adrenomyelipomata. 18F-FDG PET is increasingly used as an imaging technique to assess these lesions. We would like to highlight the potential benefits and pitfalls of using 18F-FDG PET as part of the diagnostic pathway.Method: Since 2008, 18F-FD...

The GH receptor antagonist pegvisomant entered clinical trials in 1997 and was (UK) marketed in 2005. There is little long-term experience with this novel drug. We report the experience from two centres that used common protocols to manage 58 patients (36 male, median age 53, range 27 78) since 1997. Before commencing pegvisomant, patients had IGF-I above the upper limit of normal (ULN) of age-related reference ranges (median 1.8 xULN, range 1.2–4.1 xULN) and were uncontr...

Section 1: Case history: A 30-year-old Romanian male presented to A&E with symptomatic hypoglycaemia (point-of-care venous glucose 1.8 mmol/l, laboratory value 2.0). He reported 2 days of intermittent left-sided abdominal pain and frequent food craving. Despite eating, he developed dysarthria, hyperhidrosis, somnolence and asthenia, associated with epigastric pain and vomiting. He was recently diagnosed with hepatitis C, discovered incidentally during investigations for ch...

Background: Rathke’s cleft cysts (RCC) are benign intrasellar cysts that originate from the remnants of Rathke’s pouch and contain mucoid material. Most are asymptomatic, but some may compress adjacent structures leading to visual disturbances and endocrinopathies.Case Report: A 20-year-old gentleman had an MRI Head in view of headaches. This showed a 17.7 mm peripherally enhancing suprasellar lesion with no intrinsic T1 high signal pre- contra...

Case History: In 2011, an asymptomatic 63-year-old professor was found to have isolated hypokalemia. He was normotensive and his only past medical history was hypercholesterolaemia. Investigations were suggestive of Primary Hyperaldosteronism (PHA): aldosterone 1055 pmol/L, renin mass 10 mU/L, Na+137 mmol/L, K+3.2 mmol/L, bicarbonate 31 mmol/L. A CT scan was reported as normal, but a 12mm nodule was subsequently noted contiguous with the left adrenal. A m...

Case History: A 69-year-old gentleman was admitted having lost consciousness. This episode was preceded by typical hypoglycaemic symptoms which, in retrospect, he had experienced for four decades with increasing frequency and severity over the past year. He was hypertensive. There was no family history of endocrinopathy or diabetes.Investigations: A supervised inpatient fast was undertaken along with cross-sectional and radio-isotope imaging.<p class...

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor expressed in the parathyroid gland and kidneys. Loss of function mutations of the CaSR result in familial hypocalciuric hypercalcaemia (FHH). Rarer, gain of function mutations of the CaSR result in hypercalciuric hypocalcaemia and are inherited in an autosomal dominant pattern. The phenotype varies from asymptomatic individuals, to profound hypocalcaemia. We present a severely affected individual whose case hi...

Case history: A 36 year-old man was referred to our department for further evaluation of a large adrenal and multiple liver mass lesions. These had been found on an abdominal ultrasound requested for a 3 week history of mild, episodic abdominal pain. He was asymptomatic but described mild night sweats for over 10 years.Investigations, results and treatment: Hyperparathyroidism was evident, with a serum corrected calcium 3.04 mmol/l (2.15–2.65), PTH ...