Endocrine Abstracts

Chromosome 17q12 deletion is rare. It results from the deletion of a piece of chromosome 17 in each cell. The most recognised phenotype of this mutation is a combination of kidney cysts and Maturity Onset Diabetes of the Young (MODY), which is also known as Renal Cysts and Diabetes syndrome (RCAD). RCAD is caused by a mutation in the gene encoding hepatocyte-nuclear-factor-1-beta (HNF1B) which is part of chromosome 17q12.Introduction: In 1997 while study...

Background: The prevalence of childhood vitamin D deficient rickets in the UK is rising due to lack of sun exposure. The Department of Health, Royal College of Paediatrics and Child Health (RCPCH) and the National Institute for Health and Care Excellence (NICE) have devised guidelines on vitamin D supplementation during pregnancy, breastfeeding and childhood. A recent Government initiative, Healthy Start vitamins allow access to free vitamin D for women and children from low-i...