LC–MS/MS based determination of basal- and ACTH-stimulated plasma concentrations of 11 steroid hormones: implications for detecting heterozygote CYP21A2 …

AE Kulle, FG Riepe, J Hedderich… - European journal of …, 2015 - academic.oup.com
Objective Heterozygosity in 21-hydroxylase deficiency (21OHD) has been associated with
hyperandrogenemic symptoms in children and adults. Moreover, the carrier status is …