Endocrine Abstracts

We present two families illustrating complex management issues introduced by mutational analysis in CAH.Family 1. A female index case presented at birth with ambiguous genitalia and was diagnosed with severe salt losing CAH. She is a compound heterozygote with two severe mutations: 659G (intron 2 splice site mutation) from her mother and CYP21 deletion from her father. Mother and mother's identical twin sister have compound heterozygosity for the mild mu...

Chronic exposure to elevated circulating glucocorticoids can lead to metabolic changes, which resemble those observed in Metabolic Syndrome. Features of the Metabolic Syndrome can be reversed by lowering systemic glucocorticoid levels or by treatment with a glucocorticoid receptor antagonist. At the intracellular level, exposure to glucocorticoids is regulated by two distinct 11beta-hydroxysteroid dehydrogenases, 11beta-HSD type 1 and type 2. 11beta-HSD1 predominantly acts as ...