Endocrine Abstracts

A 47 year old Macedonian Personal Trainer presented with 4 days of vomiting, abdominal pain and profuse sweating. He admitted abusing anabolic steroids 20 years previously but never insulin. The presenting capillary blood glucose (CBG) was 1.7 mmol/L, blood pressure (BP) 182/106 mmHg, pulse 62 bpm. On examination, he was sweaty, pale and cold. Blood was drawn for measurement of insulin, C-peptide, glucose, cortisol and thyroid function tests. He was treated with 50% dextrose a...

Section 1: Case history: We present the case of a 21-year-old lady known to harbour a homozygous inactivating mutation of the calcium sensing receptor (CaSR) which led to uncontrolled hypercalcaemia in infancy, necessitating emergency total parathyroidectomy. The CaSR plays an important role in calcium homeostasis. Inactivating mutations result in a higher calcium “set-point” and various degrees of hypercalcaemia based on the severity of functional impairment. In the...

Background: Adrenal Insufficiency (AI) is an inadequate production of cortisol hormone from the adrenal glands. The most common form is secondary AI (suppression of the hypothalamic-pituitary-adrenal axis), with a prevalence of approximately 300 cases per million. Patients with AI require lifelong corticosteroid replacement, which poses a risk of a life-threatening adrenal crisis (AC) event. AC presents with low blood pressure, hypoglycaemia and even loss of consciousness. Thi...

Background: Primary aldosteronism (PA) is a common, curable and high-risk subset of hypertension, mandating detection. In all but the most severe cases, learned society guidelines recommend confirmatory testing. Whilst a variety of confirmatory tests exist, data describing their safety are limited. Concerns centre around the potential of some tests to precipitate hypokalaemia or a hypertensive emergency in a patient with PA on sub-optimal anti-hypertensive medication. In this ...

Case history: A 74-year-old gentleman with primary aldosteronism (PA) was referred for the ‘MATCH’ study – a prospective comparison of 11C-metomidate PET CT with adrenal vein sampling. He took no exogenous steroids.Investigations: Na 147 mmol/l, K 3.7 mmol/l, aldosterone 496 pmol/l, renin activity <0.17 nmol/l per h, random cortisol 247 nmol/l and concomitant ACTH 9.3 ng/l. Two overnight dexamethasone suppression tests recorded values ...

Primary aldosteronism (PA) is the cause of 5–10% of hypertension, surgically curable in patients with unilateral aldosterone-producing adenomas (APAs). However <1% of patients are currently diagnosed and cured. Newer and simpler modalities of diagnosis and treatment are required. The aim of FABULAS (a feasibility study of endoscopic ultrasound-guided ablation as a non-surgical, adrenal sparing treatment for aldosterone-producing adenomas) is to determine in 30 patient...

Tumour localisation in Cushing’s disease (CD) can be challenging; most are microadenomas and 50% are <5 mm in diameter. They are, therefore, often difficult to detect by conventional MRI. Volumetric MRI (3D-SGE, spoiled-gradient echo 3D sequence) is a high spatial resolution scanning technique which uses very thin slices (1 mm). Theoretically, this increases the probability of finding small pituitary lesions when compared to conventional (spin-echo, SE) MRI techniques...

Background: Ectopic-ACTH syndrome (EAS) is an extremely rare cause of Cushing’s syndrome in young children. The intensity of ACTH secretion and hypercortisolaemia is greater in EAS than in Cushing’s disease. Control of hypercortisolaemia represents a key management step while awaiting localization of the ACTH source or in preparation to surgery. Etomidate inhibits cortisol synthesis and its rapid onset of action makes it an ideal medication in severe hypercortisolaem...

Background: Endogenous Cushing’s syndrome (CS) in children remains a challenge to diagnose and exclude. 24-h urinary free cortisol (UFC) measurements are a convenient, non-invasive test for paediatric patients.Objective: To assess the screening accuracy of 24-h UFC measurements in paediatric patients referred to our centre for evaluation of possible CS.Methods: A retrospective review of children referred to our centre between ...

Background: Succinate dehydrogenase B (SDHB) associated disease has been characterised by the presence of extra-adrenal paragangliomas with a high rate of metastatic transformation. There is currently no consensus as to the appropriate surveillance regimes for these subjects. We present the surveillance data from a single UK institution with an SDHB surveillance regime which includes annual MR imaging of the abdomen, biennial imaging of the neck, thorax and pelvis and annual u...