Endocrine Abstracts

Osteoporosis and associated fractures are the most common and debilitating complication of glucocorticoid use. The use of alternative anti-inflammatory agents without the catabolic and deleterious skeletal side-effects of glucocorticoids is needed. Dehydroepiandrosterone (DHEA) may have immunomodulatory as well as positive effects on bone. To further our understanding of the mechanisms of action of DHEA, as a steroid-sparing agent, we investigated and compared the effects of D...

The calcium sensing receptor (CaSR) plays a central role in altering the secretion of parathyroid hormone (PTH) in response to alterations in extracellular calcium, and four studies have reported an association between CaSR polymorphisms and serum Ca 2+, serum PTH, and bone mineral density (BMD). However, two other studies have failed to detect such associations. We have therefore undertaken studies to investigate the Ala986Ser, Arg990Gly, and Gln1011Glu CaSR polymo...

The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder that is due to a haploinsufficiency of the zinc-finger transcription factor, GATA3 (Nature (2000) 406: 419) whose gene is located on chromosome 10p15. In order to further characterise GATA3 abnormalities we have investigated 6 HDR patients for GATA3 mutations. Leukocyte DNA samples from the 6 probands and an unrelated normal individual were used with 9 pairs of oligonucleotide...