Endocrine Abstracts

Mutation in the genes encoding subunits of the succinate dehydrogenase enzyme complex, SDHB, SDHC and SDHD are associated with an increased risk of developing adrenal or extra-adrenal phaeochromocytoma and cervical paraganglioma. However, the penetrance in large kindreds has seldom been reported and the optimal screening for asymptomatic carriers has not been determined.The index case had a previous history of carotid body tumour and later died with meta...

Case history: We present a case of 36Y old male who presented with worsening leg edema, leg ulceration and poor mobility leading to admission in intensive care due to sepsis and hemodynamic instability. Found to have metabolic alkalosis with hypokalaemia. Clinically, moon-like facies, low proximal muscle mass, skin hypopigmentation (mainly hands), broken skin fingers and legs, abdominal fat distribution. Investigations:Random cortisol 2348nmol/l, post 1mg dexamethasone cortiso...

Background: Differentiated thyroid cancers are reported to present with synchronous distant metastases in 1–9% of cases. The most common single sites of synchronous metastases are lung (45%) and bone (39%) with dual site involvement (12%). Other single sites of metastases are rare (4%). Pleural metastases are very unusual, accounting for < 0.6% of cases.Case: A 55-year-old male smoker presented with cough, weight loss and thoracic back pain. Exa...

Objective: Mitotane (o,p’DDD) is an effective adrenolytic agent for treatment of advanced adrenocortical carcinoma (ACC). Suppression of cortisol biosynthesis, including inhibition of 11β-hydroxylation, has been described. Decreased cortisol bioavailability is indicated by increased dose requirement for hydrocortisone replacement during mitotane treatment. Urinary excretion of common cortisol metabolites (CM) has been reported to be normal but with increase of 6&#946...

A 51-year-old female presented with a 9 month history of symptoms suggestive of hypoglycaemia and associated episodes of unconsciousness, which were prevented by frequent food intake but with subsequent weight gain. She reported a history of lactose-induced anaphylaxis and the use of lactose-free subcutaneous prednisolone since sustaining a traumatic cardiac injury in 1987.Two supervised prolonged fasts demonstrated hypoglycaemia with elevated insulin le...

Introduction: Current guidelines recommend that thyroid nodules classified as Thy 3 following fine needle aspiration (FNA) should be managed surgically. This results in over-treatment of benign disease. The purpose of this study was to review multi-disciplinary team (MDT) management of Thy 3 FNAs at our institution.Patients and methods: A total of 109 FNAs were performed between April 2008 and October 2009; 31 were reported as Thy 3. The management of al...

Background: The initial management of hypercalcaemia is well described: aggressive intravenous rehydration and subsequent intravenous bisphosphonates if required. Isolated case reports document the use of haemo/peritoneal dialysis and haemofiltration in the management of severe hypercalcaemia. We report three cases that required renal replacement therapy to treat severe hypercalcaemia.Case series: A 21-year-old male presented with abdominal pain and vomi...

Adrenocortical carcinoma (ACC) is a rare malignancy, but accounts for up to 11% of adrenal masses investigated in referral centres. Diagnosis remains a challenge. Up to two thirds are biochemically inactive, resulting from de facto enzyme deficiencies in the steroid hormone biosynthetic pathways, as shown by urine steroid profiling by gas chromatography-mass spectrometry. Increased metabolites of pathway intermediates in ACC discriminate it from benign adrenal lesions...

Introduction: Adrenocortical carcinoma (ACC) is a rare disease with a poor prognosis and limited therapeutic options. Mitotane is considered as a first-line therapy but only 30% of the patients showing an objective tumour response.Erlotinib and gefitinib (tyrosine kinase inhibitors – TKI) inhibit the epidermal growth factor receptor (EGFR), which is highly expressed and occasionally mutated in various cancers. EGFR expression was found to be a good ...

Background: Kopetschke et al. (2009) suggested that nearly thirty per-cent of adrenal/extra-adrenal phaeochromocytoma were found incidentally1. However, they included cases from 1973 to 2007, whereas in the modern era CT and MR investigations are requested more frequently and earlier in the diagnostic algorithm.Methods: We report a pilot series of consecutive referrals to a tertiary centre for adrenal and extra-adrenal phaeochromocytoma from July ...