Endocrine Abstracts

Background: Congenital adrenal hyperplasia, (CAH) is a common autosomal recessive condition, 95% of which is attributable to mutations in the 21-hydroxylase (CYP21) gene. There is a wide range of clinical features and genotype phenotype correlations for common mutations are well described.Case: EG presented to the endocrine clinic at the age of 3.5 years with pubarche of 6 months duration and Tanner staging of PH3, B1and clitoromegaly (Prader stage 1) Ur...

Salt solutions are routinely used in salt losing conditions like congenital adrenal hyperplasia, pseudohypoaldosteronism, cystic fibrosis and polyuric salt wasting kidney disease. Problems with administration (of a liquid to an increasingly solid diet), compliance and the behavioural impact of altering food preferences abound.We describe the case of a 2-year-old boy DA with aldosterone synthetase deficiency who is currently on fludrocortisone and sodium ...

Introduction: Long-standing type 2 diabetes (DM) is associated with brain atrophy. In this prospective study we examined the impact of glycaemic status on total brain volume in an elderly cohort.Methods/Design: Two-year follow-up study of a population-derived cohort of non-demented community-dwelling adults aged 70–90 years (Sydney Memory and Aging Study). Prospective MRI and metabolic data were available in 312 of the 542 participants who had a MRI...

Introduction: The prevalence of impaired fasting glucose (IFG) in the elderly approaches 50% in some community-dwelling cohorts. We examined whether IFG is associated with a higher burden of disease, cardiovascular risk factors and circulating low-grade inflammation than in normoglycemic elderly people.Methods/Design: Cross-sectional data of 929 participants of the Sydney Memory and Aging Study (MAS) were examined. MAS is a population-derived cohort of c...