Urinary GC-MS steroid metabotyping in treated children with congenital adrenal hyperplasia

In order to better define treatment groups and improve treatment monitoring, the authors performed a retrospective metabotyping analysis using 24-h GC–MS urinary steroid metabolome measurements in young prepubertal children (n=109; age 7.0–1.6 years) with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD), on treatment with hydrocortisone and fludrocortisone. They identified four unique metabolomic profiles, which correspond to degree of CAH treatment control.