Endocrine Abstracts

Introduction: Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease affecting up to 30% of the population in western countries. Previous studies have demonstrated that increased glucocorticoid levels play an important role in the development of obesity, hyperglycemia, dyslipidemia, insulin resistance, as well as NAFLD. However, the effects of glucocorticoid substitution on the liver in patients with primary or secondary adrenal insufficiency have been rare...

Mutations in the gene for 3′-phospho-adenosine-5′-phosphosulfate synthase 2 (PAPSS2) are linked to bone and cartilage mal-formation. More recently, we could identify PAPSS2-mutations as mono-genetic cause for androgen excess in women due to apparent SULT2A1 deficiency, the enzyme responsible for sulfation of the testosterone precursor DHEA that relies on PAPS provision by PAPS synthases. The only human orthologue, PAPSS1, is expressed in the affected tissu...