Predicting Residual 21-Hydroxylase Enzymatic Activity in Pediatric and Adult Congenital Adrenal Hyperplasia Patients: Towards Individualized Therapy.

ABSTRACT: Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by impaired cortisol production and consequent elevated adrenocorticotropic hormone (ACTH): CAH patients often require lifelong hydrocortisone therapy. Disease severity reflects residual 21-hydroxylase enzyme activity, crucial for cortisol synthesis. Accurate assessment of residual enzymatic activity is key to developing individualized dosing. This study aimed to estimate enzymatic activity using a previously developed healthy adult ACTH-cortisol model and to evaluate the potential for individualized therapy. Leveraging ACTH (n = 62) and cortisol (n = 66) concentrations from 51 (20 pediatric, 31 adult) untreated CAH patients, and assuming maximal cortisol production (E_max) = 100% in healthy individuals, res

SUBMITTER: Bindellini D 

PROVIDER: S-EPMC12625145 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature