Endocrine Abstracts

Familial isolated growth hormone deficiency is exceedingly rare. We present two siblings of non-consanguineous parents with this syndrome and describe their response to growth hormone therapy. We have also carried out a mutational analysis of their GH1 and GHRH-R genes.A mutation scan of the entire coding region and flanking intronic sequences of GH-1 and GHRH-R was undertaken in both index cases and parents. GH1 and GHRH-R mu...

Introduction: The prevalence of abnormal liver function tests (LFTs) in the general population has been estimated to be 8.1–9.8%. Abnormal LFTs are common in diabetes although there are still few studies describing the exact prevalence. AST-to-platelet-ratio-index (APRI) and Fibrosis-4-score (FIB4) are scoring systems which can be used to estimate the degree of liver fibrosis. An APRI score >1 has a sensitivity of 76% and a specificity of 72% for predicting cirrhosis ...