Endocrine Abstracts

The adrenal cortex is the primary site of steroid synthesis, producing glucocorticoids under the control of the hypothalamic–pituitary axis and mineralocorticoids under the control of the renin–angiotensin system.Adrenal insufficiency, which can be life threatening, is cause by a number of adrenal disorders, and lifelong management of these patients with exogenous steroids can be challenging. No drug suitably mimics the diurnal pattern of corti...

Cellular reprogramming describes the process where a fully differentiated, specialized cell type is induced to transform into a different cell. Cell reprogramming techniques can become powerful tools for modelling diseases, drug testing and for personalized cellular therapy. The adrenal cortex is the primary site of steroid synthesis. Adrenal insufficiency, which can be life threatening, is caused by a number of adrenal disorders, and lifelong management of these patients with...

Introduction: Primary aldosteronism (PA) is the most common endocrine cause of hypertension affecting up-to 10% of hypertensives. Saline suppression, a confirmatory test for PA helps avoiding patients undergoing invasive lateralisation procedures due to a false positive aldosterone-to-renin ratio (ARR). The proposed cut-off to exclude PA is post-saline aldosterone suppression to <140 pmol/l. We reviewed our biochemical work-up in order to optimise laboratory assessment.</p...

Introduction: Levothyroxine, the standard therapy for hypothyroidism, is usually well tolerated and very few cases of true allergy to levothyroxine have been reported to date. Here we report two cases of rare occurrence of levothyroxine allergy.Case 1: A 56-year-old woman with no previous history of allergies started levothyroxine post-thyroidectomy for Graves’ disease. She developed facial flushing and urticarial rash within 15 minutes of the first...

Congenital adrenal hyperplasia (CAH) is a group of inherited disorders, characterised by impaired cortisol synthesis. 21-hydroxylase deficiency (21OHD) accounts for >95% of CAH cases. Lack of negative feedback on the hypothalamic–pituitary–adrenal (HPA) axis results in increased adrenal androgen production due to elevated steroid precursors, such as 17-hydroxyprogesterone, that are shifted towards androgen synthesis. Long term sequelae of poor CAH control include...

Background: Patients receiving triazole antifungals can present with hypertension and hypokalaemia. These drugs are reported to cause variable inhibition of the steroidogenic enzymes 11β hydroxylase and 11β hydroxysteroid dehydrogenase type 2 (11βHSD2). The ensuing clinical picture is similar to congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency or apparent mineralocorticoid excess (11βHSD2 deficiency), with posaconazole and itracon...

Measurement of steroid metabolites in urine by gas chromatography-mass spectrometry remains the gold standard for biochemical diagnosis of steroidogenic disorders. In the UK, three laboratories offer steroid profiling for routine clinical testing, with the Supraregional Assay Service at King’s College Hospital being the largest and experiencing increased demand year-on-year for testing. In this study, we used our profiling database to audit 2021 workload. By direct compar...

Background: Over the past decade there has been increased recognition of the dangers associated with inpatient management of diabetes insipidus (DI) and omission of desmopressin leading to hypernatremia. In May 2009 a patient died from diabetes insipidus mismanagement in a London hospital. An NHS England patient safety alert was issued in 2016 highlighting this risk.Method: Inpatients with a serum sodium of 155 mmol/l or greater were prospectively identi...

Background: Phaeochromocytoma and paraganglioma (PPGLs) are rare neuroendocrine tumours arising from the adrenal medulla and paraganglia. Biochemical assessment relies on demonstrating elevated concentrations of catecholamines and their metabolites. Analytical methods for catecholamine and metanephrine measurement vary in sensitivity and specificity. We reviewed our biochemical work-up in order to optimise patient diagnosis.Methods: This retrospective au...

Background: Metyrapone is commonly used in medical management of Cushing’s syndrome. It inhibits 11-β hydroxylase, which catalyses the conversion of 11-deoxycortisol to cortisol. The adequacy of metyrapone blockade can be assessed either clinically or biochemically using a target mean serum cortisol 150–300 nmol/l. Cortisol is normally measured by immunoassay.Case report: A 21-year-old female presented with clinical and biochemical feature...