Endocrine Abstracts

Introduction: Denosumab is an important treatment option for osteoporosis. Rebound hypercalcemia on discontinuation of denosumab is well documented. Denosumab can increase PTH, peaking within 2-4 weeks of administration and subsiding thereafter, therefore making diagnosis of primary hyperparathyroidism (pHPT) difficult. The aim of our case series is to review the calcium fluctuations in relationship to timing of denosumab administration and identify the possibility of rebound ...

Introduction: Metastases to the hypothalamus and pituitary gland account for 1–2% of sella masses. The primary malignancy may be occult at the time of diagnosis and metastatic lesions are often detected incidentally. We present a case of metastatic renal cell carcinoma presenting as a vascular pituitary tumour.Case history: A 68-year-old lady presented with headaches and diplopia secondary to right abducent nerve palsy. CT Angiography revealed an in...

Aldosterone synthase (CYP11B2) and 11beta-hydroxylase (CYP11B1) genes are highly homologous in their coding regions (95%), lie in tandem approximately 40kb apart in human chromosome 8, and may have arisen from gene duplication. The pattern of linkage disequilibrium (LD) of this region in a population is determined not only by the distribution of recombination events but also by demographic factors determining the amount of random genetic drift. There is suggestiv...

Objective: To examine if there was an association between blood pressure and two polymorphic markers, M9 (CtoG) and HindIII in the non-recombining region of the Y chromosome.Design and Methods: 204 pedigrees all including hypertensive individuals were collected from the south of Poland after local Ethical committee approval. Phenotypic data including hypertensive status as well as BP, weight and height were collected. We phenotyped and genotyped 155 unr...

Aldosterone plays a key role regulating electrolyte homeostasis and blood pressure. An elevated aldosterone to renin ratio is present in 15% of hypertensive patients but the causes of aldosterone excess are not fully understood. There is evidence of interaction between the polymorphisms in the aldosterone synthase gene (CYP11B2) and aldosterone levels in plasma and urine. However, the most consistent associations between variation at this locus and altered steroid synth...

Recent studies in non-hypertensive patients have shown aldosterone renin ratio (ARR) to be heritable and associated with increased risk of blood pressure (BP) elevation. Furthermore, a raised ARR is present in 10% of hypertensive patients although the precise significance of this is unclear. The magnitude of heritability of ARR will indicate the influence of genetic determination of the phenotype. In this study, we estimated the heritabilities of the components of ARR and the ...

Background: Intensive glycemic control forms the benchmark of management of type 1 diabetes mellitus (T1DM) and is limited by the risk of hypoglycaemia. Repeated episodes of hypoglycaemia can lead to development of hypoglycaemia unawareness and a sixfold increase in deaths in those experiencing severe hypoglycaemia. Severe hypoglycaemia occurs in 35–42% patients with T1DM. However, there is lack of data from our population and hence we aimed to objectively estimate the pr...

The locus comprising the genes that catalyse the final steps of cortisol and aldosterone synthesis (CYP11B1 and CYP11B2 respectively) is a plausible candidate risk region for hypertension and other cardiovascular diseases. Nevertheless, there remains uncertainty as to the strength of the relationship between polymorphisms at this locus and increased blood pressure. In this study, association with hypertension at the CYP11B1/CYP11B2 locus in a Caucasian cas...

Background: Glucorticoids can affect blood pressure in humans, as demonstrated most strikingly in Cushing’s syndrome. We have previously reported that total cortisol metabolite excretion is raised in obese subjects, while other investigations have identified genetically determined changes in glucocorticoid receptor function as contributors to hypertension. Furthermore, in essential hypertension, vasoconstrictor sensitivity to glucocorticoids is increased. Such raised sens...