ArticleTherapeutic advances in endocrinology and metabolism2025
Assessing cortisol levels in non-classical congenital adrenal hyperplasia: focus on the V281L variant.
Article in Therapeutic advances in endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- SomeJournal of clinical medicine · 2026Article
- Early Risk Stratification in Non-Classical Congenital Adrenal Hyperplasia Based on Newborn 17-OHP Screening Values, Hormonal Findings, and Genotype.Journal of clinical medicine · 2026Article
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7 authors.
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Abstract
Objective: Recent guidelines about Non-classical Congenital Adrenal Hyperplasia (NCCAH) indicate that if the peak cortisol response to the adrenocorticotropic hormone (ACTH) stimulation test is <14-18 µg/dL (monoclonal/polyclonal assay), it may be essential to augment the hydrocortisone dosage during significant stress events. In the current setting, when genetic diagnoses are increasingly widespread in NCCAH, there is a paucity of studies concerning cortisol responses to prevalent mutations. Aims: Our objectives are to investigate the outcomes of ACTH stimulation tests in children with NCCAH, delineate the biallelic mutations associated with insufficient cortisol responses, and evaluate the frequency of cortisol insufficiency in individuals with the V281L genotype. Our secondary objective is to assess the necessity of the ACTH stimulation test based on these results. Methods: Reviewing the retrospective medical records of 45 individuals diagnosed with NCCAH based on exacerbated clinical and biochemical findings, the mean age was 9.8 years (range: 2.4-17.9 years). Study participants had stimulated 17-hydroxyprogesterone (17-OHP) >10 ng/dL and had been investigated for 11 common Results: Almost one-third of patients had inadequate cortisol reserve. In the LCR group, 17-OHP 0' levels were greater, but cortisol 0' levels were lower, with no difference in stimulated responses (15.4 ± 10.5 vs 7.8 ± 6.2, Conclusion: Our findings emphasize that a significant portion of patients with the mild/mild V281 mutation exhibit inadequate cortisol responses, highlighting the importance of the ACTH stimulation test in diagnosis and the need for careful monitoring in clinical treatment, as well as consideration of genotype variations.
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