IMPE Abstracts

Congenital adrenal hyperplasia (CAH) is a group of inherited conditions affecting the cortisol production in the adrenal cortex due to a defect in one of the enzymes involved in the cortisol synthesis. The most common enzymatic defect is 21 hydroxylase deficiency (21OHD) leading to a lack of cortisol and mostly also aldosterone and an overproduction of adrenal androgens due to chronically elevated ACTH production. Patients need lifelong glucocorticoid substitution to replace t...

The primary goals of newborn screening (NBS) for congenital adrenal hyperplasia (CAH) are the prevention of life-threatening salt-wasting crisis in the most severe forms. NBS for CAH from dried blood spots has been implemented in several countries. An increased 17-hydroxyprogesterone (17OHP) concentration in heel-prick blood is used to indicate patients at risk of having CAH. However, compared with the detection of other diseases by NBS, CAH screening is associated with a high...

Almost 40 years ago the first human CYP21A2 gene mutation was reported causing classic congenital adrenal hyperplasia. Meanwhile variants and associated disorders have been described for almost all genes involved in adrenal steroidogenesis leading to mineralocorticoid (MC), glucocorticoid and adrenal sex precursor deficiency in various combinations. In addition, variants in genes comprised in the hypothalamic-pituitary adrenal axis regulating steroidogenesis have been identifi...