Interpretation of steroid biomarkers in 21-hydroxylase deficiency and their use in disease management

Brief summary: In this Minireview, one pediatric and one adult case with 21-hydroxylase deficiency (21OHD) are discussed with respect to different clinical questions and steroid biomarkers reflecting their diagnosis, treatment and disease control. Basics of the disease mechanisms with different aspects throughout life (childhood, adulthood, sex, fertility and pregnancy) are discussed to lay grounds for the interpretation and use of laboratory data, including the newer 11-oxygenated androgens, for clinical decision making of optimal treatment.