Endocrine Abstracts

A 16-year-old boy was referred to our endocrine unit. He had been diagnosed with constitutional short stature (height <10th centile) aged 11, having not grown well for two years. At that time there were no features to suggest Cushing's syndrome (CS), though he was overweight (BMI 22kg/m2, >90th centile) and bone age was delayed by 2 years. A trial of growth hormone (GH) therapy did not increase growth velocity. By age 15, he was developin...

Objective: To construct rat congenic strains to confirm and narrow down a region on rat chromosome 2 previously implicated in blood pressure regulation. To determine expression profiles and identify differentially expressed genes between congenic strain and respective parental strain using microarray technology.Design and Methods: Total RNA was prepared from whole kidney homogenates from 2x parental SHRSPGla and 2x SP.WKYGla2a congenic rats. Expression ...

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: A polymorphism within the CYP11B2 gene, characterised by a C/T substitution at position 344, the putative binding site for steroidogenic transcription factor1, has been shown to influence aldosterone excretion rate and blood pressure in essential hypertension.Aims: Assess the effect of contrasting genotype for the SF1 site on urinary and plasma steroid production during dietary manipulation of the renin-angiotensin system and assess the press...

Objective. The aims of our study were to utilise a combination of high fidelity phenotyping, microarray gene expression profiling and conserved synteny mapping between rodent and human genomes to identify genetic determinants underlying human hypertension.Methods. We used the stroke-prone spontaneously hypertensive rat (SHRSP) and a congenic strain (SP.WKYGla2c*) produced by introgressing a quantitative trait locus responsible for blood pressure regulation on rat chromosom...

Objective: Three nonsynonomous SNPs, Arg16Gly, Gln27Glu and Thr164Ile, in the coding region of the ADRB2 gene affect either receptor affinity or trafficking. Their distribution has been shown to differ significantly in hypertension. We investigated the association of these loci with hypertension in the Silesian Hypertension Study.Methods: Following local ethics approval, 274 unrelated Polish subjects consisting of 146 hypertensives and 128 normotensives ...