hrp0095rfc5.3 | Adrenals and HPA Axis | ESPE2022

Towards understanding the metabolic phenotype of glucocorticoid deficiency in 21-hydroxylase deficiency

Bacila Irina , Li Nan , Eachus Helen , Storbeck Karl-Heinz , T Cunliffe Vincent , P Krone Nils

Background: Steroid 21-hydroxylase deficiency (21OHD) is the most common form of congenital adrenal hyperplasia. Patients present with cortisol and aldosterone deficiency as well as with hyperandrogenism, leading to virilisation in females and early adrenarche in both sexes. Requiring life-long glucocorticoid (GC) replacement, patients frequently experience daily fluctuations between GC overexposure and deficiency. Increased prevalence of metabolic disease con...