Endocrine Abstracts

Initial clinical trials with pegvisomant at doses of up to 80 mg once weekly led to a 30% fall in IGF-I. Subsequently, daily administration of up to 40 mg/day (280 mg/week) achieved an IGF-I within reference range in 97% of patients. Pegvisomant’s half-life is >70 h suggesting weekly dosing may be possible using higher doses than in the original trials.We performed a two-centre, open-label prospective study in seven patients (4M, 3F, mean age 57...

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...

A 55year old man with neurofibromatosis type 1 and hypertension presented with a 1 month history of recurrent falls. Examination revealed an unsteady gait with poor co-ordination, impaired joint position sense and a positive Romberg’s test, with no other abnormal neurological findings.An MRI spine revealed an expanding intramedullary lesion T8-L1 with a differential diagnosis of an ependymoma, astrocytoma and intradural extra medullary schwannoma.</...

Etomidate, an imidazole derived anaesthetic agent, potently inhibits adrenocortical 11-beta-hydroxylase at non-hypnotic doses in Cushing's syndrome. We report its use in controlling hypercortisolism in a patient with aggressive Cushing's disease requiring pelvic surgery for endometrial carcinoma.IJ, a 42-year old female was diagnosed with Cushing's disease in 1998 in Malaysia. 8am cortisol was 800nmol/l, midnight cortisol 659nmol/l and ACTH 103ng/l. MRI ...

Glucocorticoids are potentially important in obesity; recent data suggest both circulating levels and tissue-specific changes in glucocorticoid responsiveness and metabolism may influence their effect. In obese Zucker rats, the phenotype is ameliorated by adrenalectomy, and shows the same pattern of altered glucocorticoid metabolism as in human obesity. However, previous reports suggest hepatic glucocorticoid receptor (GR) binding is impaired. We have now explored expression o...

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...