Endocrine Abstracts

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...

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 ...

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...

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...

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...