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La forme classique d’hyperplasie congénitale des Surrénales par bloc en 21 hydroxylase (21OHD), requiert typiquement des doses supraphysiologiques de glucocorticoïdes (GC). Le crinecerfont, antagoniste oral du CRF1, réduit ACTH et androgènes surrénaliens chez ces patients dans les essais phase 2. Cette étude de phase 3 NCT04490915 évalue la réduction de la dose quotidienne de GC et le maintien du contrôle des androgènes sous crinecerfont.

Many women with 21-hydroxylase (21-OH)-deficient nonclassic adrenal hyperplasia (NCAH) carry at least one allele containing a severe mutation of CYP21, and as such are at risk for giving birth to an infant having classic adrenal hyperplasia (CAH). Infants with NCAH typically are asymptomatic at birth, in contrast to those with CAH, but they do develop symptoms of hyperandrogenism later in childhood or as adults. This international multicenter study, conducted both retrospectively and prospectively, was an attempt to determine how often mothers with 21-OH-deficient NCAH bear infants having CAH or NCAH. The 101 women entering the study had a total of 203 pregnancies that could be evaluated. Fourteen tertiary referral centers in nine countries participated in the study. The diagnosis of 21-OH-deficient NCAH was based on a baseline or post-ACTH level of 17-hydroxyprogesterone exceeding 10 ng/mL. Where feasible, the offspring underwent genotypic analysis.