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Best Practice for Identification of Classical 21-Hydroxylase Deficiency Should Include 21 Deoxycortisol Analysis with
Ronda F Greaves1,2, Monish Kumar1, Nazha Mawad1
1Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
International Journal of Neonatal Screening
|October 24, 2023
Summary
21 deoxycortisol (21DF) is a reliable marker for diagnosing classical 21-hydroxylase deficiency in newborns. This study recommends its inclusion in newborn screening for improved accuracy in congenital adrenal hyperplasia detection.
Area of Science:
- Biochemistry
- Endocrinology
- Newborn Screening
Background:
- Mixed reports exist regarding 21 deoxycortisol (21DF) as a primary marker for classical 21-hydroxylase deficiency.
- Potential reasons for variability may include insufficient recognition of isomeric steroid separation.
Purpose of the Study:
- To evaluate the diagnostic utility of 21DF for classical 21-hydroxylase deficiency.
- To compare 21DF with 17-hydroxyprogesterone (17OHP) using a method separating isomeric steroids.
Main Methods:
- Employed a second-tier LC-MS/MS method for steroid analysis in dried blood spots.
- Analyzed 924 non-CAH and 17 CAH samples.
- Utilized univariate and receiver operator characteristic (ROC) analysis.
Main Results:
- 21DF demonstrated superior sensitivity and specificity for diagnosing classical 21-hydroxylase deficiency (AUC = 1.0).
- A strong correlation (r = 0.83) was observed between 17OHP and 21DF.
- The method successfully separated isomeric steroids.
Conclusions:
- 21DF is a robust and accurate marker for classical 21-hydroxylase deficiency.
- Recommends incorporating 21DF into newborn screening panels and follow-up testing.
- Highlights the importance of isomeric steroid separation in diagnostic assays.
