Serum 21-Deoxycortisol for Diagnosis of Nonclassic Congenital Adrenal Hyperplasia in Women With Androgen Excess
Authors' conclusion
LC-MS/MS-specific 17OHP thresholds for NCCAH are lower than those based on immunoassay. LC-MS/MS-quantified 17OHP and 21DF accurately discriminate HTZ and NCCAH from PCOS.
Study context
- Population
- Hyperandrogenic females; Synacthen stimulation test (SST) and CYP21A2 genotyping 2010–2017, prospectively recruited 2017–2021; genetically confirmed nonclassic congenital adrenal hyperplasia (NCCAH), heterozygosity (HTZ) and polycystic ovary syndrome (PCOS)
- Participants
- 99 hyperandrogenic females
- Comparison
- Serum 21DF vs 17OHP for diagnosis of NCCAH and HTZ vs PCOS
- Outcome
- LC-MS/MS-specific criteria (optimal thresholds by ROC analysis) for NCCAH and HTZ; diagnostic accuracy of 21DF vs 17OHP
Methodological detailscross-sectional, retrospective and prospective recruitment, LC-MS/MS
- Cross-sectional
- Retrospective and prospective recruitment
- LC-MS/MS
Performance
As reported in the abstract
Optimal thresholds and diagnostic accuracy for NCCAH and HTZ
- NCCAH threshold, basal 17OHP
- 3.0 nmol/L
- NCCAH threshold, stimulated 17OHP
- 20.7 nmol/L
- NCCAH threshold, basal 21DF: sensitivity 100%, specificity 96.8%
- 0.31 nmol/L
- NCCAH threshold, stimulated 21DF: sensitivity 100%, specificity 100%
- 13.3 nmol/L
- HTZ threshold, stimulated 17OHP: sensitivity 100%, specificity 80.4%
- 8.0 nmol/L
- HTZ threshold, 21DF: sensitivity 100%, specificity 90.5%
- 1.0 nmol/L
- HTZ threshold, ratio (21DF + 17OHP)/cortisol: sensitivity 100%, specificity 85.0%
- 13.6
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
Serum 21-Deoxycortisol for Diagnosis of Nonclassic Congenital Adrenal Hyperplasia in Women With Androgen Excess. J Clin Endocrinol Metab. Published 26 June 2023. doi:10.
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