ArticleJournal of endocrinological investigation2025
Diagnostic cut-offs of 17-hydroxyprogesterone by LC-MS/MS in children with non-classical congenital adrenal hyperplasia.
Article in Journal of endocrinological investigation, 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.
- Machine learning algorithms to accelerate etiological diagnosis of congenital disorders of adrenal steroidogenesis.The Journal of clinical endocrinology and metabolism · 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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11 authors.
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Abstract
purposeCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, commonly caused by 21-hydroxylase mutations, that converts 17-hydroxyprogesterone (17-OHP) into 11-deoxycortisol in the adrenal cortex. Elevated morning serum levels of 17-OHP identify suspected CAH, and the diagnosis is confirmed by CYP21 A2 gene analysis. Liquid-chromatography tandem mass spectrometry (LC-MS/MS) has become the recommended method for 17-OHP measurement; however, diagnostic 17-OHP thresholds measured with LC-MS/MS are not yet defined. We aimed to identify optimal cut-offs for basal and peak 17-OHP levels after ACTH stimulation test, measured by LC-MS/MS, to distinguish non-classical CAH (NC-CAH) and heterozygous carriers (HC) from wild type subjects (WT) in children.
methodsWe retrospectively analyzed the records of 198 children referred for suspected NC-CAH.
resultsThe ideal basal 17-OHP cut-off to differentiate NC-CAH from WT subjects was 0.94 ng/mL (2.82 nmol/L) with AUC 0.988 (95% CI 0.972-1.000; sensitivity 100%, specificity 90%). The optimal peak 17-OHP cut-off was 7.81 ng/mL (23.43 nmol/L) with AUC 0.998 (95% CI 0.994-1.000; sensitivity 100%, specificity 97%). The ideal basal 17-OHP cut-off to distinguish HC from WT subjects was 0.81 ng/mL (2.43 nmol/L), with AUC 0.727 (95% CI 0.645-0.809; sensitivity 54%, specificity 83%); while the optimal peak 17-OHP cut-off was 3.79 ng/mL (11.37 nmol/L) with AUC 0.932 (95% CI 0.894-0.971; sensitivity 96%, specificity 87%).
conclusionsThe ideal cut-offs of peak 17OHP able to distinguish NC-CAH and HC individuals from WT subjects were significantly lower to using LC-MS/MS. These new thresholds demonstrate high sensitivity and specificity, making them effective in distinguishing individuals with suspected NC-CAH.
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