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...

hrp0089fc14.4 | Multisystem Endocrine Disorders | ESPE2018

Glucocorticoid Deficiency Causes Differentially Dysregulated Oxidative Stress Depending on the Steroidogenic Defects

Li Nan , Weger Meltem , Griffin Aliesha , Eachus Helen , Cunliffe Vincent T , Krone Nils

Glucocorticoids regulate a wide range of biological processes including metabolism. Patients with adrenal insufficiency show impaired glucocorticoid biosynthesis either caused by adrenal defects (primary adrenal insufficiency) or by defects in the pituitary gland or hypothalamus (secondary or tertiary adrenal insufficiency). The systemic consequences of differentially disrupted steroid hormone biosynthesis remain unclear. Increasing evidence suggested steroid hormone precursor...