Endocrine Abstracts

Triple A syndrome is is a rare autosomal recessive disorder characterised by achalasia, alacrima, adrenocorticotropin-resistant adrenal insufficiency and a variable and progressive neurological phenotype. The AAAS gene encodes a 60kD WD-repeat nuclear pore protein named ALADIN (alacrima, achalasia, adrenal insufficiency neurologic disorder); its function and tissue distribution are unknown. In this study we performed in situ hybridization with 35S end-labelled AAAS mRNA oligon...

Introduction: Glucocorticoids may exert important actions in early pregnancy on the invading trophoblast. The local actions of glucocorticoids can be modulated by 11β-hydroxysteroid dehydrogenase (11β-HSD) enzymes which catalyse inter-conversion of cortisol with its inert metabolite, cortisone. Although two cloned 11β-HSD isoenzymes are known to be expressed in the term placenta, their expression and activity have not been well characterised in the first trimest...

Background: Cyclical Cushing’s syndrome has been considered to be a rare clinical entity, characterised by periodic increases in cortisol levels followed by regression of the Cushing’s syndrome. The cycles of hypercortisolism may occur before the establishment of the diagnosis, rendering actual diagnosis difficult, or may occur after inadequate or ineffective treatment and affect disease management. The aim of this study was to investigate the prevalence of cyclicity...