Precursor-to-product ratios reflect biochemical phenotype in congenital adrenal hyperplasia

Metabolomics

Volumn 10, Issue 1, 2014, Pages 123-131

  Hicks, Rebecca A ^a   Yee, Jennifer K ^a   Mao, Catherine S ^a   Graham, Steve ^b   Kharrazi, Martin ^b   Lorey, Fred ^b   Lee, W P ^a  

^a LOS ANGELES BIOMEDICAL RESEARCH INSTITUTE   (United States)

^b CALIFORNIA DEPARTMENT OF PUBLIC HEALTH   (United States)

Author keywords

Congenital adrenal hyperplasia; Newborn screening; Precursor to product ratios; Steroid profiling

Indexed keywords

ANDROSTENEDIONE; CORTODOXONE; HYDROCORTISONE; HYDROXYPROGESTERONE; STEROID;

ACCURACY; ARTICLE; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; DATA ANALYSIS; DRIED BLOOD SPOT TESTING; FEMALE; HUMAN; LIQUID CHROMATOGRAPHY; MALE; PHENOTYPE; TANDEM MASS SPECTROMETRY;

EID: 84892486520     PISSN: 15733882     EISSN: 15733890     Source Type: Journal    
DOI: 10.1007/s11306-013-0558-1     Document Type: Article

References (21)

1. Dhillon, K., Ho, T., Rich, P., Xu, D., Lorey, F., She, J., et al. (2011). An automated method on analysis of blood steroids using liquid chromatography tandem mass spectrometry: application to population screening for congenital adrenal hyperplasia in newborns. Clinica Chimica Acta, 412(23-24), 2076-2084.
2. Ersch, J., Beinder, E., Stallmach, T., Bucher, H. U., & Torresani, T. (2008). 17-Hydroxyprogesterone in premature infants as a marker of intrauterine stress. Journal of Perinatal Medicine, 36(2), 157-160.
3. Fingerhut, R. (2009). False positive rate in newborn screening for congenital adrenal hyperplasia (CAH)-ether extraction reveals two distinct reasons for elevated 17alpha-hydroxyprogesterone (17-OHP) values. Steroids, 74(8), 662-665.
4. Finkielstain, G. P., Chen, W., Mehta, S. P., Fujimura, F. K., Hanna, R. M., van Ryzin, C., et al. (2011). Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism, 96(1), E161-E172.
5. Health CDoP. (2012). Endocrine diseases. Newborn screening program: State of California.
6. Hicks, R. A., Ferreira, B. F., Mao, C. S., Yee, J. K., & Lee, W.-P. (2012). The use of 17-α-hydroxyprogesterone to 11-deoxycortisol ratio in newborn screening of congenital adrenal hyperplasia. Journal of Clinical Investigation, 60, 222.
7. Hingre, R. V., Gross, S. J., Hingre, K. S., Mayes, D. M., & Richman, R. A. (1994). Adrenal steroidogenesis in very low birth weight preterm infants. Journal of Clinical Endocrinology and Metabolism, 78(2), 266-270.
8. Holst, J. P., Soldin, S. J., Tractenberg, R. E., Guo, T., Kundra, P., Verbalis, J. G., et al. (2007). Use of steroid profiles in determining the cause of adrenal insufficiency. Steroids, 72(1), 71-84.
9. Janzen, N., Peter, M., Sander, S., Steuerwald, U., Terhardt, M., Holtkamp, U., et al. (2007). Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry. Journal of Clinical Endocrinology and Metabolism, 92(7), 2581-2589.
10. Joint, L. E. C. A. H. W. G. (2002). Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Journal of Clinical Endocrinology and Metabolism, 87(9), 4048-4053.
11. Jopling, J., Henry, E., Wiedmeier, S. E., & Christensen, R. D. (2009). Reference ranges for hematocrit and blood hemoglobin concentration during the neonatal period: data from a multihospital health care system. Pediatrics, 123(2), e333-e337.
12. Lacey, J. M., Minutti, C. Z., Magera, M. J., Tauscher, A. L., Casetta, B., McCann, M., et al. (2004). Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clinical Chemistry, 50(3), 621-625.
13. Matern, D., Tortorelli, S., Oglesbee, D., Gavrilov, D., & Rinaldo, P. (2007). Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007). Journal of Inherited Metabolic Disease, 30(4), 585-592.
14. Minutti, C. Z., Lacey, J. M., Magera, M. J., Hahn, S. H., McCann, M., Schulze, A., et al. (2004). Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism, 89(8), 3687-3693.
15. Mitchell, M. L., & Hermos, R. J. (1998). Cortisol in dried blood screening specimens from newborns with raised 17-hydroxyprogesterone and congenital adrenal hyperplasia. Clinical Endocrinology (Oxf), 48(6), 757-760.
16. Peter, M., Sippell, W. G., Lorenzen, F., Willig, R. P., Westphal, E., & Grosse-Wilde, H. (1990). Improved test to identify heterozygotes for congenital adrenal hyperplasia without index case examination. Lancet, 335(8701), 1296-1299.
17. Sarafoglou, K., Banks, K., Gaviglio, A., Hietala, A., McCann, M., & Thomas, W. (2012). Comparison of one-tier and two-tier newborn screening metrics for congenital adrenal hyperplasia. Pediatrics, 130(5), e1261-e1268.
18. Soldin, S. J., & Soldin, O. P. (2009). Steroid hormone analysis by tandem mass spectrometry. Clinical Chemistry, 55(6), 1061-1066.
19. Speiser, P. W., Azziz, R., Baskin, L. S., Ghizzoni, L., Hensle, T. W., Merke, D. P., et al. (2010a). Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. Journal of Clinical Endocrinology and Metabolism, 95(9), 4133-4160.
20. Speiser, P. W., Azziz, R., Baskin, L. S., Ghizzoni, L., Hensle, T. W., Merke, D. P., et al. (2010b). Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. Journal of Clinical Endocrinology and Metabolism, 95(9), 4133-4160.
21. White, P. C. (2009). Neonatal screening for congenital adrenal hyperplasia. Nature Reviews Endocrinology, 5(9), 490-498.