Endocrine Abstracts

A 21-year-old woman with homozygous sickle cell disease, presented to A&E with vomiting and diarrhoea, and was noted to be hypercalcaemic (corrected calcium 3.00 mmol/l [ref. 2.2–2.6]; phosphate 0.48 mmol/l [ref. 0.8–1.5]). She reported polyuria and polydipsia, but no other symptoms of hypercalcaemia. There was no history of renal stones, renal impairment, or fragility fracture. A maternal aunt required parathyroidectomy in middle age. Bloods revealed PTH 138.4 pmo...

Background: Paediatric thyrotoxicosis due Graves’ disease (GD)and Hashimoto’s thyroiditis (HT) disease is both more rare yet more severe than in adulthood. Antithyroid drug treatment (ATD) is with carbimazole or PTU either alone (dose titration (DT)) or with L-thyroxine (L-T4) – block and replace (BR).Methods: We have examined outcome of medical treatment in a cohort of patients treated from 1989 to...

Introduction: Regimens for pre-operative α and β-blockade for patients with secretory phaeochromocytomas/paragangliomas vary widely between centres. The worldwide lack of availability of intravenous phenoxybenzamine (Goldshield) has removed a useful tool in the management of phaeochromocytoma crisis and has necessitated a change in our institution’s routine pre-operative strategy. We compare pre, peri and post-operative surrogate measures of blockade in a cohort...

The CYP11B1 and CYP11B2 genes encode the enzymes responsible, respectively, for the terminal stages of cortisol and aldosterone biosynthesis, and have been implicated in the development of essential hypertension. Previously, we investigated the role of microRNAs in the regulation of these genes and showed in vitro that levels of the adrenally-expressed microRNA-24 (miR-24) inversely correlate with those of CYP11B1 and CYP11B2 mRNA, ...

The final reaction for cortisol production in the adrenal gland is catalysed by the 11β-hydroxylase enzyme, encoded by the CYP11B1 gene. Variants in this gene have been associated with alterations in cortisol levels, which increase blood pressure. This gene is traditionally thought to consist of 9 exons. However, recent evidence has predicted the existence of at least one alternatively spliced form.The presence of novel CYP11B1 mRN...

Objective: (1) To review normative data for catecholamines using our cohort of hyperaldosteronism patients undergoing adrenal vein sampling. This adds to the previously published data of normative values in a cohort of patients with cortisol-producing adenoma. (2) To demonstrate the usefulness of the noradrenaline to adrenaline ratio in the interpretation of adrenal venous sampling results.Design: 38 patients underwent successful, bilateral adrenal venou...

Introduction: The circadian clock controls numerous aspects of mammalian physiology across the 24 hour day. The suprachiasmatic nucleus (SCN) is the “master clock” which coordinates the peripheral clocks in the body, including the pineal clock that receives SCN input via a multisynaptic noradrenergic pathway. Murine studies have shown a role for the core clock gene BMAL1 in the regulation of blood pressure. Selected haplotypes of BMAL1 have previously been associated...

Essential hypertension is known to have a large genetic component. Variation in the CYP11B2 gene, which encodes the aldosterone synthase enzyme, is associated with excess aldosterone production and hypertension but the causative mechanism remains elusive. miRNAs are a class of post-transcriptional regulatory molecules, implicated in cardiovascular disease, development and tumourogenesis. They act by targeting the 3′ untranslated region (UTR) of mRNAs, inhibiting t...

Background: Phaeochromocytomas (PHAEOs) and paragangliomas (PGLs) are rare catecholamine producing tumours which are potentially lethal if left untreated and may be associated with a wide variety of complications. Optimum management demands multidisciplinary input from endocrinologists, biochemists, geneticists and endocrine surgeons.Objective: A retrospective audit into the management of PHAEOs/PGLs at our institution against the 2005 recommendations ma...

Circulating estrogens decrease after the menopause from 60–400 to 5–30 pg/ml in postmenopausal women and in men are below 30 pg/ml. These low physiological concentrations present an analytical challenge. Analysis of steroids by tandem mass spectrometry is attractive due to its high specificity compared with immunoassays. However, estrogens do not ionise efficiently and therefore chemical modifications are necessary to achieve the sensitivity required.<p class="ab...