Neonatal screening for congenital adrenal hyperplasia

White, Perrin C.

doi:10.1038/nrendo.2009.148

Cited by 240Sexual Differentiation and DisordersMetabolism and Genetic DisordersAdrenal Hormones and Disorders

Neonatal screening for congenital adrenal hyperplasia

White, Perrin C.·2009·Nature Reviews Endocrinology

DOI 10.1038/nrendo.2009.148

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Abstract

Congenital adrenal hyperplasia (CAH) caused by steroid 21-hydroxylase deficiency occurs in 1:16,000-1:20,000 births. If not promptly diagnosed and treated, CAH can cause death in early infancy from shock, hyponatremia and hyperkalemia. Affected girls usually have ambiguous genitalia but boys appear normal; therefore, newborn babies are commonly screened for CAH in the US and many other countries. By identifying babies with severe, salt-wasting CAH before they develop adrenal crises, screening reduces morbidity and mortality, particularly among affected boys. Diagnosis is based on elevated levels of 17-hydroxyprogesterone, the preferred substrate for steroid 21-hydroxylase. Initial testing usually involves dissociation-enhanced lanthanide fluorescence immunoassay that has a low positive predictive value (about 1%), which leads to many follow-up evaluations that have negative results. The positive predictive value might be improved by second-tier screening using DNA-based methods or liquid chromatography followed by tandem mass spectrometry, but these methods are not widely adopted. Cost estimates for such screening range from US$20,000 to $300,000 per life-year saved. In babies with markedly abnormal screen results, levels of serum electrolytes and 17-hydroxyprogesterone should be immediately determined, but the most reliable way to diagnose CAH is measurement of levels of steroid precursors after stimulation with cosyntropin.

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Analyzing the CYP21A2 crystal structure has provided novel insights into the underlying molecular pathology.
“By analyzing the CYP21A2 crystal structure, novel insights into the underlying molecular pathology have been gained (105,230).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [230]
CAH screening is generally successful in identifying affected patients with classic CAH, especially if combined with a second-tier follow-up.
“Although often plagued by ambiguous results and false calls, the CAH screening is generally successful in identifying affected patients with classic CAH, especially if combined with a secondtier follow-up. 3,27”
From High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. (2019) · cites this paper as [3]
Continuous subcutaneous hydrocortisone infusion has shown adequate ACTH suppression with lower total hydrocortisone dose compared to conventional treatment.
“Continuous subcutaneous hydrocortisone infusion via an insulin pump mimicking cortisol circadian rhythm, has similarly shown adequate ACTH suppression with lower total hydrocortisone dose compared to conventional treatment, 139-142”
From Congenital adrenal hyperplasia (2017) · cites this paper as [139]
Because congenital adrenal hyperplasia is rare, the positive predictive value is very low, although specificity and sensitivity are very high.
“Because CAH is a rare disease, the positive predictive value is very low, although the specificity and sensitivity are very high (77).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [77]

Cochrane Database of Systematic Reviews
(2008) · Springer eBooks · doi:10.1007/978-1-4020-5614-7_436 · Cited by 4,552 · see citing works
Consensus Statement on Management of Intersex Disorders
Lee, P. A., Houk, C. P., Ahmed, S. F., Hughes, I. A., & in collaboration with the participants in the International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology (2006) · Pediatrics · doi:10.1542/peds.2006-0738 · Cited by 2,324 · see citing works
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency*
White, P. C., & Speiser, P. W. (2000) · Endocrine Reviews · doi:10.1210/edrv.21.3.0398 · Cited by 1,432 · see citing works
Self-citation
Congenital Adrenal Hyperplasia
Speiser, P., & White, P. C. (1987) · New England Journal of Medicine · doi:10.1056/nejm198711263172211 · Cited by 1,409 · see citing works
Self-citation
Genotyping steroid 21-hydroxylase deficiency: hormonal reference data
NEW, M. I., LORENZEN, F., LERNER, A. J., KOHN, B., OBERFIELD, S. E., POLLACK, M. S., DUPONT, B., STONER, E., LEVY, D. J., PANG, S., et al. (1983) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-57-2-320 · Cited by 624 · see citing works
High frequency of nonclassical steroid 21-hydroxylase deficiency
SPEISER, P. W., DUPONT, B. O., RUBINSTEIN, P., PIAZZA, A., KASTELAN, A., & NEW, M. I. (1986) · Obstetrical & Gynecological Survey · doi:10.1097/00006254-198604000-00017 · Cited by 523 · see citing works
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
Flück, C. E., Tajima, T., Pandey, A. V., Arlt, W., Okuhara, K., Verge, C. F., Jabs, E. W., Mendonça, B. B., Fujieda, K., & Miller, W. L. (2004) · Nature Genetics · doi:10.1038/ng1300 · Cited by 509 · cited 1× · see citing works
“During stimulation testing, clinicians should keep in mind that 17-OHP levels might be elevated as a result of other enzymatic defects, particularly 11β-hydroxylase deficiency and, more rarely, 3β-hydroxysteroid dehydrogenase deficiency and P450 oxidoreductase deficiency (Antley–Bixler syndrome)”
Executive Summary
Watson, M. S., Mann, M. Y., Lloyd-Puryear, M. A., Rinaldo, P., & Howell, R. R. (2006) · Genetics in Medicine · doi:10.1097/01.gim.0000223891.82390.ad · Cited by 492 · see citing works
Consensus Statement on 21-Hydroxylase Deficiency from The European Society for Paediatric Endocrinology and The Lawson Wilkins Pediatric Endocrine Society
Vogeser, M., Zachoval, R., Felbinger, T. W., Jacob, K., Radetti, G., Bona, G., Corrias, A., Cappa, M., DeSanctis, V., Lauriola, S., et al. (2002) · Hormone Research in Paediatrics · doi:10.1159/000065490 · Cited by 451 · see citing works
Worldwide Experience in Newborn Screening for Classical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Pang, S., Wallace, M. A., Hofman, L., Thuline, H. C., Dorche, C., Lyon, I. C. T., Dobbins, R. H., Kling, S., Fujieda, K., & Suwa, S. (1988) · Journal of Urology · doi:10.1016/s0022-5347(17)42164-1 · Cited by 392 · see citing works
Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia
Therrell, B. L., Berenbaum, S. A., Manter-Kapanke, V., Simmank, J., Korman, K., Prentice, L., Gonzalez, J., & Gunn, S. (1998) · Pediatrics · doi:10.1542/peds.101.4.583 · Cited by 344 · see citing works
Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology
Joint LWPES/ESPE CAH Working Group (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-020611 · Cited by 332 · see citing works
Worldwide Experience in Newborn Screening for Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Pang, S., Wallace, M. A., Hofman, L. F., Thuline, H. C., Dorche, C., Lyon, I. C. T., Dobbins, R. H., Kling, S., Fujieda, K., & Suwa, S. (1988) · PEDIATRICS · doi:10.1542/peds.81.6.866 · Cited by 302 · see citing works
Microfilter paper method for 17α-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia
PANG, S., HOTCHKISS, J., DRASH, A. L., LEVINE, L. S., & NEW, M. I. (1977) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-45-5-1003 · Cited by 293 · see citing works
High frequency of nonclassical steroid 21-hydroxylase deficiency.
Speiser, P., Dupont, B., Rubinstein, P., Piazza, A., Kaštelan, A., & New, M. I. (1985) · PubMed · Cited by 265 · see citing works
Neonatal screening in Europe; the situation in 2004
Loeber, J. G. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0644-5 · Cited by 251 · see citing works
Comment on Comparison of the Low Dose Short Synacthen Test (1μ g), the Conventional Dose Short Synacthen Test (250 μg), and the Insulin Tolerance Test for Assessment of the Hypothalamo-Pituitary-Adrenal Axis in Patients with Pituitary Disease1
Oelkers, W. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.8.5939-1 · Cited by 243 · see citing works
Expanded Newborn Screening for Biochemical Disorders: The Effect of a False-Positive Result
Gurian, E. A., Kinnamon, D. D., Henry, J. J., & Waisbren, S. E. (2006) · PEDIATRICS · doi:10.1542/peds.2005-2294 · Cited by 223 · see citing works
Newborn screening for congenital adrenal hyperplasia
Therrell, B. L. (2001) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(08)70017-3 · Cited by 221 · see citing works
Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004–2007)
Matern, D., Tortorelli, S., Oglesbee, D., Gavrilov, D., & Rinaldo, P. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0691-y · Cited by 217 · see citing works
Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry
Lacey, J. M., Minutti, C. Z., Magera, M. J., Tauscher, A. L., Casetta, B., McCann, M., Lymp, J., Hahn, S. H., Rinaldo, P., & Matern, D. (2004) · Clinical Chemistry · doi:10.1373/clinchem.2003.027193 · Cited by 216 · cited 1× · see citing works
“Direct biochemical analysis of steroid levels by liquid chromatography then tandem mass spectrometry (LC–MS/MS) addresses these issues more effectively than do organic solvent extraction immunoassays”
Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry
Janzen, N., Peter, M., Sander, S., Steuerwald, U., Terhardt, M., Holtkamp, U., & Sander, J. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-2890 · Cited by 211 · see citing works
Repeat doses of prenatal corticosteroids for women at risk of preterm birth for preventing neonatal respiratory disease
Crowther, C., & Harding, J. E. (2000) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd003935 · Cited by 183 · see citing works
A Mutation (Pro-30 to Leu) in<i>CYP</i>21 Represents a Potential Nonclassic Steroid 21-Hydroxylase Deficiency Allele
Tusie-Luna, M.-T., Speiser, P. W., Dumic, M., New, M. I., & White, P. C. (1991) · Molecular Endocrinology · doi:10.1210/mend-5-5-685 · Cited by 183 · see citing works
Self-citation
Repeat doses of prenatal corticosteroids for women at risk of preterm birth for preventing neonatal respiratory disease
Crowther, C. A., & Harding, J. E. (2007) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd003935.pub2 · Cited by 177 · see citing works
Automated, fast and sensitive quantification of 17α-hydroxy-progesterone, androstenedione and testosterone by tandem mass spectrometry with on-line extraction
Rauh, M., Gröschl, M., Rascher, W., & Dörr, H. G. (2006) · Steroids · doi:10.1016/j.steroids.2006.01.015 · Cited by 170 · see citing works
Comprehensive cost-utility analysis of newborn screening strategies
Carroll, A. E., & Downs, S. M. (2006) · PEDIATRICS · doi:10.1542/peds.2005-2633h · Cited by 165 · see citing works
Identification of the Steroids in Neonatal Plasma that Interfere with 17 Alpha-Hydroxyprogesterone Radioimmunoassays
Wong, T., Shackleton, C. H., Covey, T. R., & Ellis, G. (1992) · Clinical Chemistry · doi:10.1093/clinchem/38.9.1830 · Cited by 159 · see citing works
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia
Minutti, C. Z., Lacey, J. M., Magera, M. J., Hahn, S. H., McCann, M., Schulze, A., Cheillan, D., Dorche, C., Chace, D. H., Lymp, J. F., et al. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-032235 · Cited by 154 · see citing works
Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels
Allen, D. B., Hoffman, G. L., Fitzpatrick, P., Laessig, R., Maby, S., & Slyper, A. (1997) · The Journal of Pediatrics · doi:10.1016/s0022-3476(97)70321-4 · Cited by 153 · see citing works
Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden
Thilén, A., Nordenström, A., Hagenfeldt, L., von Döbeln, U., Guthenberg, C., & Larsson, A. (1998) · PEDIATRICS · doi:10.1542/peds.101.4.e11 · Cited by 151 · see citing works
Neonatal screening for congenital adrenal hyperplasia
van der Kamp, H., & Wit, J. (2004) · European Journal of Endocrinology · doi:10.1530/eje.0.151u071 · Cited by 128 · see citing works
Development and Performance Evaluation of a Tandem Mass Spectrometry Assay for 4 Adrenal Steroids
Kushnir, M. M., Rockwood, A. L., Roberts, W. L., Pattison, E. G., Owen, W. E., Bunker, A. M., & Meikle, A. W. (2006) · Clinical Chemistry · doi:10.1373/clinchem.2006.068445 · Cited by 125 · cited 1× · see citing works
“If second-tier screening with LC–MS/MS is employed, all relevant steroids can be measured at the same time, which greatly facilitates the diagnoses of other forms of CAH”
Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value
Olgemöller, B., Roscher, A. A., Liebl, B., & Fingerhut, R. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021732 · Cited by 124 · see citing works
Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees
Day, D. J. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.12.2039 · Cited by 121 · see citing works
Congenital Adrenal Hyperplasia: Neonatal Mass Screening Compared With Clinical Diagnosis Only in the Emilia-Romagna Region of Italy, 1980-1995
Balsamo, A., Cacciari, E., Piazzi, S., Cassio, A., Bozza, D., Pirazzoli, P., & Zappulla, F. (1996) · PEDIATRICS · doi:10.1542/peds.98.3.362 · Cited by 116 · see citing works
Genotyping of CYP21, Linked Chromosome 6p Markers, and a Sex-Specific Gene in Neonatal Screening for Congenital Adrenal Hyperplasia
Fitness, J., Dixit, N. M., WEBSTER, D. R., Torresani, T., Pergolizzi, R. G., Speiser, P., & Day, D. J. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.3.5550 · Cited by 116 · see citing works
Cutoff Levels of 17-α-Hydroxyprogesterone in Neonatal Screening for Congenital Adrenal Hyperplasia Should Be Based on Gestational Age Rather Than on Birth Weight
van der Kamp, H. J., Oudshoorn, C. G. M., Elvers, B. H., van Baarle, M., Otten, B. J., Wit, J. M., & Verkerk, P. H. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-2136 · Cited by 114 · see citing works
Current status of neonatal screening for congenital adrenal hyperplasia
Pang, S., & Shook, M. K. (1997) · Current Opinion in Pediatrics · doi:10.1097/00008480-199708000-00018 · Cited by 104 · see citing works
How Many Deaths Can Be Prevented by Newborn Screening for Congenital Adrenal Hyperplasia?
Grosse, S. D., & Van Vliet, G. (2007) · Hormone Research in Paediatrics · doi:10.1159/000098400 · Cited by 102 · see citing works
Carrier Frequency of Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) in a Middle European Population
Baumgartner-Parzer, S. M., Nowotny, P., Heinze, G., Waldhäusl, W., & Vierhapper, H. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1728 · Cited by 97 · see citing works
Effect of newborn screening for congenital adrenal hyperplasia
Brosnan, P. G., Brosnan, C. A., Kemp, S. F., Domek, D. B., Jelley, D. H., Blackett, P. R., & Riley, W. J. (1999) · Archives of Pediatrics & Adolescent Medicine · doi:10.1001/archpedi.153.12.1272 · Cited by 91 · see citing works
Newborn Screening for Congenital Adrenal Hyperplasia inthe Netherlands
Van der Kamp, H. J., Noordam, K., Elvers, B., Van Baarle, M., Otten, B. J., & Verkerk, P. H. (2001) · PEDIATRICS · doi:10.1542/peds.108.6.1320 · Cited by 86 · see citing works
Congenital Adrenal Hyperplasia in Sweden 1969‐1986 Prevalence, Symptoms and Age at Diagnosis
Thilén, A., & Larsson, A. (1990) · Acta Paediatrica · doi:10.1111/j.1651-2227.1990.tb11434.x · Cited by 66 · see citing works
Female Preponderance in Congenital Adrenal Hyperplasia due to CYP21 Deficiency in England: Implications for Neonatal Screening
Nordenström, A., Ahmed, S., Jones, J., Coleman, M., Price, D. A., Clayton, P. E., & Hall, C. M. (2005) · Hormone Research in Paediatrics · doi:10.1159/000082896 · Cited by 66 · see citing works
Multiplex Minisequencing of the 21-Hydroxylase Gene as a Rapid Strategy to Confirm Congenital Adrenal Hyperplasia
Krone, N. P., Braun, A. D., Weinert, S., Peter, M., Roscher, A. A., Partsch, C., & Sippell, W. G. (2002) · Clinical Chemistry · doi:10.1093/clinchem/48.6.818 · Cited by 64 · see citing works
Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia
Votava, F., Török, D., Kovács, J., Möslinger, D., Baumgartner-Parzer, S. M., Sólyom, J., Pribilincová, Z., Battelino, T., Lebl, J., Frisch, H., et al. (2005) · European Journal of Endocrinology · doi:10.1530/eje.1.01929 · Cited by 64 · see citing works
Phenotypes, genotypes and disease susceptibility associated with gene copy number variations: complement C4 CNVs in European American healthy subjects and those with systemic lupus erythematosus
Wu, Y. L., Yang, Y., Chung, E. K., Zhou, B., Kitzmiller, K. J., Savelli, S., Nagaraja, H., Birmingham, D. J., Tsao, B. P., Rovin, B. H., et al. (2008) · Cytogenetic and Genome Research · doi:10.1159/000184700 · Cited by 63 · see citing works
Newborn screening for congenital adrenal hyperplasia has reduced sensitivity in girls
Varness, T. S., Allen, D. B., & Hoffman, G. L. (2005) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2005.04.035 · Cited by 61 · see citing works
Effect of single and multiple courses of prenatal corticosteroids on 17-hydroxyprogesterone levels: implication for neonatal screening of congenital adrenal hyperplasia
Gatelais, F., Berthelot, J., Beringue, F., Descamps, P., Bonneau, D., Limal, J.-M., & Coutant, R. (2004) · Pediatric Research · doi:10.1203/01.pdr.0000142733.50918.6e · Cited by 60 · see citing works
Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency
Donaldson, M. D., Thomas, P. H., Love, J. G., Murray, G. D., McNinch, A. W., & Savage, D. C. (1994) · Archives of Disease in Childhood · doi:10.1136/adc.70.3.214 · Cited by 60 · see citing works
Learning disabilities in children with congenital adrenal hyperplasia
Nass, R., & Baker, S. (1991) · Journal of Child Neurology · doi:10.1177/088307389100600404 · Cited by 57 · see citing works
Screening for congenital adrenal hyperplasia: the Delfia Screening Test overestimates serum 17-hydroxyprogesterone in preterm infants
Saedi, S. A., Dean, H., Dent, W., Stockl, E., & Cronin, C. (1996) · PEDIATRICS · doi:10.1542/peds.97.1.100 · Cited by 55 · see citing works
High Reliability of Neonatal Screening for Congenital Adrenal Hyperplasia in Switzerland
Steigert, M., Schoenle, E. J., Biason‐Lauber, A., & Torresani, T. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-012093 · Cited by 53 · see citing works
Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency
Kösel, S., Burggraf, S., Fingerhut, R., Dörr, H. G., Roscher, A. A., & Olgemöller, B. (2005) · Clinical Chemistry · doi:10.1373/clinchem.2004.042416 · Cited by 52 · see citing works
Neonatal Screening Program for Congenital Adrenal Hyperplasia: Adjustments to the Recall Protocol
Gruñeiro‐Papendieck, L., Prieto, L., Chiesa, A. E., Bengolea, S. V., Bossi, G., & Bergadá, C. (2001) · Hormone Research in Paediatrics · doi:10.1159/000050012 · Cited by 48 · see citing works
Multiplex Ligation-Dependent Probe Amplification Technique for Copy Number Analysis on Small Amounts of DNA Material
Sørensen, K. M., Andersen, P. S., Larsen, L. A., Schwartz, M., Schouten, J. P., & Nygren, A. O. H. (2008) · Analytical Chemistry · doi:10.1021/ac801688c · Cited by 42 · see citing works
Parental Tolerance of False-positive Newborn Screening Results
Prosser, L. A., Ladapo, J. A., Rusinak, D., et al. (2008) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpediatrics.2008.1 · Cited by 41 · see citing works
The cost effectiveness of screening newborns for congenital adrenal hyperplasia
Yoo, B. K., & Grosse, S. D. (2009) · Public Health Genomics · doi:10.1159/000156115 · Cited by 37 · see citing works
Using Real-Time, Quantitative PCR for Rapid Genotyping of the Steroid 21-Hydroxylase Gene in a North Florida Population
Olney, R. C., Mougey, E. B., Wang, J., Shulman, D. I., & Sylvester, J. E. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.2.8273 · Cited by 36 · see citing works
Screening for congenital adrenal hyperplasia: Distribution of 17α-hydroxyprogesterone concentrations in neonatal blood spot specimens
Thompson, R. G., Seargeant, L. E., & Winter, J. S. D. (1989) · The Journal of Pediatrics · doi:10.1016/s0022-3476(89)80557-8 · Cited by 34 · see citing works
Immature adrenal steroidogenesis in preterm infants
Nomura, S. (1997) · Early Human Development · doi:10.1016/s0378-3782(97)00037-6 · Cited by 32 · see citing works
Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria
Strnadová, K. A., Votava, F., Lebl, J., Mühl, A., Item, C., Bodamer, O. A., Torresani, T., Bouška, I., Waldhauser, F., & Sperl, W. (2006) · European Journal of Pediatrics · doi:10.1007/s00431-006-0154-8 · Cited by 30 · see citing works
Analysis of blood spot 17 alpha-hydroxyprogesterone concentration in premature infants--proposal for cut-off limits in screening for congenital adrenal hyperplasia.
Ohkubo, S., Shimozawa, K., Matsumoto, M., & Kitagawa, T. (1992) · PubMed · Cited by 25 · see citing works
A Case of 11β-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS
Peter, M., Janzen, N., Sander, S., Korsch, E., Riepe, F. G., & Sander, J. (2008) · Hormone Research in Paediatrics · doi:10.1159/000113027 · Cited by 25 · see citing works
Direct solid-phase time-resolved fluoroimmunoassay of 17 alpha-hydroxyprogesterone in serum and dried blood spots on filter paper
Gonzalez, R. R., Mäentausta, O., Solyom, J., & Vihko, R. (1990) · Clinical Chemistry · doi:10.1093/clinchem/36.9.1667 · Cited by 25 · see citing works
Antenatal corticosteroids and newborn screening for congenital adrenal hyperplasia
King, J. L., Naber, J. M., Hopkin, R. J., Repaske, D. R., Bailey, L., & Leslie, N. D. (2001) · Archives of Pediatrics & Adolescent Medicine · doi:10.1001/archpedi.155.9.1038 · Cited by 24 · see citing works
Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency
Yang, Y. (2001) · Molecular Diagnosis · doi:10.1054/modi.2001.26587 · Cited by 23 · see citing works
Mutations of the CYP21 Gene in Nonclassical Steroid 21-Hydroxylase Deficiency in Japan.
Tajima, T., Fujieda, K., Nakae, J., MIKAMI, A., & Cutler, G. B. (1998) · Endocrine Journal · doi:10.1507/endocrj.45.493 · Cited by 23 · see citing works
Analysis of Blood Spot 17α‐Hydroxyprogesterone Concentration in Premature Infants—Proposal for Cut‐Off Limits in Screening for Congenital Adrenal Hyperplasia—
Ohkubo, S., Shimozawa, K., Matsumoto, M., & Kitagawa, T. (1992) · Pediatrics International · doi:10.1111/j.1442-200x.1992.tb00938.x · Cited by 18 · see citing works
15β-Hydroxylated steroids may be diagnostically misleading in confirming congenital adrenal hyperplasia suspected by a newborn screening programme
Lange-Kubini, K., ZACHMANN, M., Kempken, B., & Torresani, T. (1996) · European Journal of Pediatrics · doi:10.1007/bf02282880 · Cited by 13 · see citing works
Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency
YANG, Y.-P., CORLEY, N., & GARCIA-HERAS, J. (2001) · Molecular Diagnosis · doi:10.2165/00066982-200106030-00007 · Cited by 13 · see citing works
The Endocrinologist’s Approach to the Intersex Patient
White, P. C. (2002) · Advances in experimental medicine and biology · doi:10.1007/978-1-4615-0621-8_7 · Cited by 6 · see citing works
Self-citation
Genotyping Is a Valuable Diagnostic Complement to Neonatal Screening for Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency<sup>1</sup>
Nordenström, A., Thilén, A., Hagenfeldt, L., Larsson, A., & Wedell, A. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.5.5651 · Cited by 2 · see citing works

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Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society Clinical Practice Guideline.
Speiser, P. W., Azziz, R., Baskin, L. S., Ghizzoni, L., Hensle, T. W., Merke, D. P., Meyer-Bahlburg, H. F. L., Miller, W. L., Montori, V. M., Oberfield, S. E., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2631 · Cited by 1,484 · see citing works
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Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline
Speiser, P. W., Arlt, W., Auchus, R. J., Baskin, L. S., Conway, G. S., Merke, D. P., Meyer-Bahlburg, H. F. L., Miller, W. L., Murad, M. H., Oberfield, S. E., et al. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-01865 · Cited by 1,234 · see citing works
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Congenital adrenal hyperplasia
El-Maouche, D., Arlt, W., & Merke, D. P. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31431-9 · Cited by 669 · see citing works
Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
Self-citation
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Merke, D. P., & Auchus, R. J. (2020) · New England Journal of Medicine · doi:10.1056/nejmra1909786 · Cited by 341 · see citing works
MANAGEMENT OF ENDOCRINE DISEASE: diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency
Nordenström, A., & Falhammar, H. (2019) · European Journal of Endocrinology · doi:10.1530/eje-18-0712 · Cited by 158 · see citing works
Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency
Reisch, N., Willige, M., Kohn, D., Schwarz, H.-P., Allolio, B., Reincke, M., Quinkler, M., Hahner, S., & Beuschlein, F. (2012) · European Journal of Endocrinology · doi:10.1530/eje-12-0161 · Cited by 136 · see citing works
Presentation of primary adrenal insufficiency in childhood
Hsieh, S., & White, P. C. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-0015 · Cited by 131 · see citing works
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Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome
Falhammar, H., & Nordenström, A. (2015) · Endocrine · doi:10.1007/s12020-015-0656-0 · Cited by 127 · see citing works
Nationwide Neonatal Screening for Congenital Adrenal Hyperplasia in Sweden: A 26-Year Longitudinal Prospective Population-Based Study
Gidlöf, S., Wedell, A., Guthenberg, C., von Döbeln, U., & Nordenström, A. (2014) · JAMA Pediatrics · doi:10.1001/jamapediatrics.2013.5321 · Cited by 119 · see citing works
Management challenges and therapeutic advances in congenital adrenal hyperplasia
Mallappa, A., & Merke, D. P. (2022) · Nature Reviews Endocrinology · doi:10.1038/s41574-022-00655-w · Cited by 113 · see citing works
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
Pignatelli, D., Carvalho, B. L., Palmeiro, A., Barros, A., Guerreiro, S. G., & Macut, D. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00432 · Cited by 95 · see citing works
Congenital adrenal hyperplasia: time to replace 17OHP with 21-deoxycortisol
Miller, W. L. (2019) · Hormone Research in Paediatrics · doi:10.1159/000501396 · Cited by 93 · see citing works
Comprehensive analysis of congenital adrenal hyperplasia using long-read sequencing
Liu, Y., Chen, M., Liu, J., Mao, A., Teng, Y., Yan, H., Zhu, H., Li, Z., Liang, D., & Wu, L. (2022) · Clinical Chemistry · doi:10.1093/clinchem/hvac046 · Cited by 80 · see citing works
Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
Nandagopal, R., Sinaii, N., Avila, N. A., Van Ryzin, C., Chen, W., Finkielstain, G. P., Mehta, S. P., McDonnell, N. B., & Merke, D. P. (2011) · European Journal of Endocrinology · doi:10.1530/eje-11-0019 · Cited by 81 · see citing works
Biochemical and genetic diagnosis of 21-hydroxylase deficiency
Falhammar, H., Wedell, A., & Nordenström, A. (2015) · Endocrine · doi:10.1007/s12020-015-0731-6 · Cited by 80 · see citing works
Congenital adrenal hyperplasia and the second newborn screen
Chan, C. L., McFann, K., Taylor, L., Wright, D., Zeitler, P. S., & Barker, J. M. (2013) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2013.01.002 · Cited by 46 · see citing works
Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states
Held, P. K., Shapira, S. K., Hinton, C. F., Jones, E., Hannon, W. H., & Ojodu, J. (2015) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2015.08.004 · Cited by 44 · see citing works
The cost effectiveness of screening newborns for congenital adrenal hyperplasia
Yoo, B. K., & Grosse, S. D. (2009) · Public Health Genomics · doi:10.1159/000156115 · Cited by 37 · see citing works
Evaluation of a two-tier screening pathway for congenital adrenal hyperplasia in the New South Wales newborn screening programme
Lai, F., Srinivasan, S., & Wiley, V. (2020) · International Journal of Neonatal Screening · doi:10.3390/ijns6030063 · Cited by 32 · see citing works
Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia
van der Linde, A. A. A., Schönbeck, Y., van der Kamp, H. J., van den Akker, E. L. T., van Albada, M. E., Boelen, A., Finken, M. J. J., Hannema, S. E., Hoorweg-Nijman, G., Odink, R. J., et al. (2019) · Archives of Disease in Childhood · doi:10.1136/archdischild-2018-315972 · Cited by 32 · see citing works
European Adrenal Insufficiency Registry (EU-AIR): a comparative observational study of glucocorticoid replacement therapy
Ekman, B., Fitts, D., Marelli, C., Murray, R. D., Quinkler, M., & Zelissen, P. M. (2014) · BMC Endocrine Disorders · doi:10.1186/1472-6823-14-40 · Cited by 31 · see citing works
Hospital admission patterns in children with CAH: admission rates and adrenal crises decline with age
Rushworth, R. L., Falhammar, H., Munns, C. F., Maguire, A. M., & Torpy, D. J. (2016) · International Journal of Endocrinology · doi:10.1155/2016/5748264 · Cited by 30 · see citing works
High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
Lao, Q., Brookner, B., & Merke, D. P. (2019) · The Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2019.06.001 · Cited by 29 · see citing works
Clinical impact and cost efficacy of newborn screening for congenital adrenal hyperplasia
Fox, D. A., Ronsley, R., Khowaja, A. R., Haim, A., Vallance, H., Sinclair, G., & Amed, S. (2020) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2019.12.057 · Cited by 28 · see citing works
Storage stability of five steroids and in dried blood spots for newborn screening and retrospective diagnosis of congenital adrenal hyperplasia
Grecsó, N., Zádori, A., Szécsi, I., Baráth, Á., Galla, Z., Bereczki, C., & Monostori, P. (2020) · PLoS ONE · doi:10.1371/journal.pone.0233724 · Cited by 26 · see citing works
The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling
Jiang, X., Tang, F., Feng, Y., Li, B., Jia, X., Tang, C., Liu, S., & Huang, Y. (2019) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2019-0140 · Cited by 21 · see citing works
Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany
on behalf of the German Society of Pediatric Endocrinology and Diabetology, Dörr, H. G., Wollmann, H. A., Hauffa, B. P., & Woelfle, J. (2018) · BMC Endocrine Disorders · doi:10.1186/s12902-018-0263-1 · Cited by 22 · see citing works
Utility of a precursor-to-product ratio in the evaluation of presumptive positives in newborn screening of congenital adrenal hyperplasia
Tieh, P. Y., Yee, J. K., Hicks, R. A., Mao, C. S., & Lee, W.-N. (2017) · Journal of Perinatology · doi:10.1038/jp.2016.223 · Cited by 19 · see citing works
Application of principal component analysis to newborn screening for congenital adrenal hyperplasia
Lasarev, M. R., Bialk, E. R., Allen, D. B., & Held, P. K. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa371 · Cited by 19 · see citing works
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening
Liu, S.-Y., Lee, C.-T., Tung, Y.-C., Chien, Y.-H., Hwu, W.-L., & Tsai, W.-Y. (2018) · Journal of the Formosan Medical Association · doi:10.1016/j.jfma.2017.03.008 · Cited by 18 · see citing works
Formas virilizantes simples de hiperplasia suprarrenal congénita: adaptación y validación prospectiva del cribado molecular de diagnóstico
Santomé Collazo, J. L., Cirujano Segura, A., Ferreiro Fernández, B., Casado Fúnez, C., Muñoz-Pacheco, R., & Ezquieta Zubicaray, B. (2010) · Medicina Clínica · doi:10.1016/j.medcli.2009.11.039 · Cited by 10 · see citing works
Risk factors for hospitalization of children with congenital adrenal hyperplasia
Yang, M., & White, P. C. (2017) · Clinical Endocrinology · doi:10.1111/cen.13309 · Cited by 7 · see citing works
Self-citation

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next diseaseincluded in the neonatal screening program in Poland
Ginalska-Malinowska, M. (2020) · PubMed · doi:10.34763/devperiodmed.20182202.197200 · Cited by 7 · see citing works
Insulin insensitivity in adrenal hyperplasia due to nonclassical steroid 21-hydroxylase deficiency.
Speiser, P. W., Serrat, J., New, M. I., & Gertner, J. M. (1992) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.75.6.1464643 · Cited by 143 · see citing works
The Hypothalamic-Pituitary-Adrenal Axis in Partial (Late-Onset) 21-Hydroxylase Deficiency*
Feuillan, P., Pang, S., Schürmeyer, T. H., Avgerinos, P. C., & Chrousos, G. P. (1988) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-67-1-154 · Cited by 42 · see citing works
Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Zetterström, R. H., Karlsson, L., Falhammar, H., Lajić, S., & Nordenström, A. (2020) · International Journal of Neonatal Screening · doi:10.3390/ijns6030071 · Cited by 34 · see citing works
Clinical profile of patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase defiiciency
Dar, S. A., Charoo, B. A., Qazi, I. A., et al. (2016) · National Journal of Medical Research · Cited by 1 · see citing works

Authors: White, P. C.
Affiliations: The University of Texas Southwestern Medical Center (US)
Corresponding author: White, Perrin C.
ORCID: White, Perrin C.
Venue: Nature Reviews Endocrinology
Publisher: Springer Science and Business Media LLC
Published: 2009-09
Volume: 5
Issue: 9
Pages: 490-498
ISSN: 1759-5029 (ISSN-L)
1759-5037
DOI: 10.1038/nrendo.2009.148
OpenAlex: W1995900346
Cited by: 240
References: 74
Citations by year: 2026: 4 · 2025: 8 · 2024: 15 · 2023: 13 · 2022: 13 · 2021: 14 · 2020: 17 · 2019: 18 · 2018: 11 · 2017: 18 · 2016: 24 · 2015: 11 · 2014: 10 · 2013: 13 · 2012: 17
FWCI: 1.25
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Endocrinology (publishedVersion)
PubMed (publishedVersion)
Funders: Vedecká Grantová Agentúra MŠVVaŠ SR a SAV
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Keywords: congenital adrenal hyperplasia, newborn screening, 21-hydroxylase deficiency, 17-hydroxyprogesterone, ACTH stimulation test, salt-wasting CAH, ambiguous genitalia, positive predictive value, cost-effectiveness, adrenal crisis, hyponatremia, hyperkalemia
MeSH terms: Adrenal Hyperplasia, Congenital, Electrolytes, Humans, Infant, Newborn, Neonatal Screening, 17-alpha-Hydroxyprogesterone

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Neonatal screening for congenital adrenal hyperplasia

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