IMPE Abstracts

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...