ArticleFrontiers in endocrinology2026
Post-ACTH peak cortisol response is associated with genotype in children with nonclassic congenital adrenal hyperplasia.
Article in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Suboptimal cortisol levels after ACTH stimulation have been recently reported in approximately 30% of patients with nonclassic congenital adrenal hyperplasia (NCCAH). There is little information on the role of genotype on cortisol secretion in NCCAH. The aim of this study is to investigate the association between genotype (i.e compound heterozygote for one mild and one severe Methods: Retrospective chart review to identify children with NCCAH who had 1) Results: The cohort included 23 children - 12 M/M and 11 M/S diagnosed at 6.6 years old (SD 3.6, range 0.25-15). Peak cortisol levels were lower in the M/S group compared to M/M (mean +/- SD, 13.2 +/- 3.3 Conclusion: The data suggest higher rates of suboptimal cortisol response in children with NCCAH who have mild/severe genotype compared to mild/mild.
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