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Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Open accessAbstract
Background: Genetic analysis is commonly performed in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Study Objective: The objective of the study was to describe comprehensive CYP21A2 mutation analysis in a large cohort of CAH patients. Methods: Targeted CYP21A2 mutation analysis was performed in 213 patients and 232 parents from 182 unrelated families. Complete exons of CYP21A2 were sequenced in patients in whom positive mutations were not identified by targeted mutation analysis. Copy number variation and deletions were determined using Southern blot analysis and PCR methods. Genotype was correlated with phenotype. Results: In our heterogeneous U.S. cohort, targeted CYP21A2 mutation analysis did not identify mutations on one allele in 19 probands (10.4%). Sequencing identified six novel mutations (p.Gln262fs, IVS8+1G>A, IVS9-1G>A, p.R408H, p.Gly424fs, p.R426P) and nine previously reported rare mutations. The majority of patients (79%) were compound heterozygotes and 69% of nonclassic (NC) patients were compound heterozygous for a classic and a NC mutation. Duplicated CYP21A2 haplotypes, de novo mutations and uniparental disomy were present in 2.7% of probands and 1.9 and 0.9% of patients from informative families, respectively. Genotype accurately predicted phenotype in 90.5, 85.1, and 97.8% of patients with salt-wasting, simple virilizing, and NC mutations, respectively. Conclusions: Extensive genetic analysis beyond targeted CYP21A2 mutational detection is often required to accurately determine genotype in patients with CAH due to the high frequency of complex genetic variation.
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“Several reports in European, Mediterranean, Middle Eastern, and Chinese populations confirmed a high frequency of the pathogenic IVS2-13A/C > G and found it to comprise 20 to 25% of the CYP21A2 mutant alleles and to translate to the most severe SW forms of the disease when inherited in homozygosity [1, 4, 27, 39–43].”
From Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene (2023) · cites this paper as [39]
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“All subjects had previously completed comprehensive genetic analysis related to 21-hydroxylase de fi ciency at the time of study, including a targeted PCR-based CYP21A2 mutation analysis of 12 common CYP21A2 mutations and screening for the presence of a 30-Kb deletion based on 12 single-nucleotide polymorphic markers (Esoterix Laboratory Services, Calabasas Hills, CA). Samples testing positive for”
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 [7]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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“Given that approximately 30% of classic CAH mutations are 30-Kb deletions 7”
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 [7]
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“Consequently, the SW form generally results from combinations of two severe alleles (groups 0 or A), whereas the SV form arises in patients homozygous for group B variants, or compound heterozygous of group B variants with groups null or A. The NC phenotype usually manifests in carriers of two mild alleles (group C) or combinations of mild and severe (groups null, A or B) variants (22, 26, 47, 48)”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [26]
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“Most affected individuals are compound heterozygotes, and the clinical outcome is typically determined by the allele that maintains the highest residual enzyme activity.”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [26]
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“In 21-OHD, a strong correlation between genotype and phenotype has been consistently reported across multiple populations (22, 26, 46, 47).”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [26]
In the citing paper
“The discovery of POR deficiency in 2004 15,16 provided an explanation for multiple hormonal deficiency initially known as apparent combined 17OH and 21OH deficiency.”
From Congenital adrenal hyperplasia (2017) · cites this paper as [15]
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“Phenotypic classification was determined based on clinical and hormonal criteria and has been previously reported 11.”
From Cortical bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (2015) · cites this paper as [11]
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“Good genotype-phenotype correlation was observed and has been previously reported (5).”
From Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia (2012) · cites this paper as [5]
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“The diagnosis was confirmed with hormonal testing and genotyping (5).”
From Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia (2012) · cites this paper as [5]
In the citing paper
“For NCCAH, almost 70% of diagnosed patients are compound heterozygotes, carrying one allele that causes classic CAH and one that causes NCCAH (171, 246).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [246]
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Citations
Cites
Congenital Adrenal Hyperplasia
Speiser, P., & White, P. C. (1987) · New England Journal of Medicine · doi:10.1056/nejm198711263172211 · Cited by 1,420
Congenital adrenal hyperplasia
Speiser, P. W., & White, P. C. (2003) · New England Journal of Medicine · doi:10.1056/nejmra021561 · Cited by 1,405
Congenital adrenal hyperplasia.
Merke, D. P., & Bornstein, S. R. (2005) · The Lancet · doi:10.1016/s0140-6736(05)66736-0 · Cited by 628
Self-citationSpeiser, P. W., Dupont, J., Zhu, D., Serrat, J., Buegeleisen, M., Tusie-Luna, M. T., Lesser, M., New, M. I., & White, P. C. (1992) · Journal of Clinical Investigation · doi:10.1172/jci115897 · Cited by 572
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
Congenital Adrenal Hyperplasia
Levy, J. B., & Husmann, D. A. (1996) · The Journal of Urology · doi:10.1097/00005392-199608001-00060 · Cited by 415
Krone, N., Braun, A., Roscher, A. A., Knorr, D., & Schwarz, H. P. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.3.6441 · Cited by 397
Wedell, A. (1994) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.78.5.1145 · Cited by 370
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
Steroid 21-hydroxylase deficiency: genotype may not predict phenotype
Wilson, R. C. (1995) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.80.8.2322 · Cited by 324
Cited by
Sorted by citations
The Diagnosis of Polycystic Ovary Syndrome during Adolescence
Witchel, S. F., Oberfield, S., Rosenfield, R. L., Codner, E., Bonny, A., Ibáñez, L., Pena, A., Horikawa, R., Gomez-Lobo, V., Joel, D., et al. (2015) · Hormone Research in Paediatrics · doi:10.1159/000375530 · Cited by 3,113
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 1,468
Self-citationSpeiser, 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
Self-citationCongenital adrenal hyperplasia
El-Maouche, D., Arlt, W., & Merke, D. P. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31431-9 · Cited by 669
Self-citationCongenital 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
Self-citationNew, M. I., Abraham, M., Gonzalez, B., Dumic, M., Razzaghy-Azar, M., Chitayat, D., Sun, L., Zaidi, M., Wilson, R. C., & Yuen, T. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1300057110 · Cited by 365
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
Self-citationClinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia
Finkielstain, G. P., Kim, M. S., Sinaii, N., Nishitani, M., Van Ryzin, C., Hill, S. C., Reynolds, J. C., Hanna, R. M., & Merke, D. P. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-2102 · Cited by 313
Self-citationGenetics of congenital adrenal hyperplasia
Krone, N., & Arlt, W. (2009) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2008.10.014 · Cited by 312
Ceyhan‐Birsoy, O., Murry, J. B., Machini, K., Lebo, M. S., Yu, T. W., Fayer, S., Genetti, C. A., Schwartz, T. S., Agrawal, P. B., Parad, R. B., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.11.016 · Cited by 307
Congenital adrenal hyperplasia
Auer, M. K., Nordenström, A., Lajić, S., & Reisch, N. (2022) · The Lancet · doi:10.1016/s0140-6736(22)01330-7 · Cited by 241
Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia
Turcu, A. F., & Auchus, R. J. (2015) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2015.02.002 · Cited by 177
Mallappa, A., Sinaii, N., Kumar, P., Whitaker, M. J., Daley, L.-A., Digweed, D., Eckland, D. J. A., Van Ryzin, C., Nieman, L. K., Arlt, W., et al. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-3809 · Cited by 167
Self-citationNordenström, A., & Falhammar, H. (2019) · European Journal of Endocrinology · doi:10.1530/eje-18-0712 · Cited by 158
Hannah-Shmouni, F., Morissette, R., Sinaii, N., Elman, M., Prezant, T. R., Chen, W., Pulver, A., & Merke, D. P. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.46 · Cited by 141
Self-citationManagement of adolescents with congenital adrenal hyperplasia
Merke, D. P., & Poppas, D. P. (2013) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(13)70138-4 · Cited by 134
Self-citationKrone, N., Rose, I. T., Willis, D. S., Hodson, J., Wild, S. H., Doherty, E. J., Hahner, S., Parajes, S., Stimson, R. H., Han, T. S., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-3343 · Cited by 119
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants
Simonetti, L., Bruque, C. D., Fernández, C. S., Benavides-Mori, B., Delea, M., Kolomenski, J. E., Espeche, L. D., Buzzalino, N. D., Nadra, A. D., & Dain, L. (2018) · Human Mutation · doi:10.1002/humu.23351 · Cited by 122
Approach to the patient: the adult with congenital adrenal hyperplasia
Auchus, R. J., & Arlt, W. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-1440 · Cited by 121
Baumgartner-Parzer, S., Witsch-Baumgartner, M., & Hoeppner, W. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-0653-5 · Cited by 110
Treatment and health outcomes in adults with congenital adrenal hyperplasia
Han, T. S., Walker, B. R., Arlt, W., & Ross, R. J. (2014) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2013.239 · Cited by 102
Marino, R., Ramirez, P., Galeano, J., Perez Garrido, N., Rocco, C., Ciaccio, M., Warman, D. M., Guercio, G., Chaler, E., Maceiras, M., et al. (2011) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2011.04123.x · Cited by 98
Arboleda, V. A., Lee, H., Sánchez, F. J., Délot, E. C., Sandberg, D., Grody, W., Nelson, S., & Vilain, E. J. N. (2012) · Clinical Genetics · doi:10.1111/j.1399-0004.2012.01879.x · Cited by 98
Genetics of Congenital Adrenal Hyperplasia
Hannah-Shmouni, F., Chen, W., & Merke, D. P. (2017) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2017.01.008 · Cited by 97
Self-citationConcolino, P., & Costella, A. (2018) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-018-0319-y · Cited by 96
El-Maouche, D., Hargreaves, C. J., Sinaii, N., Mallappa, A., Veeraraghavan, P., & Merke, D. P. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-00208 · Cited by 93
Self-citationLivadas, S., Dracopoulou, M., Dastamani, A., Sertedaki, A., Maniati-Christidi, M., Magiakou, A.-M., Kanaka‐Gantenbein, C., Chrousos, G. P., & Dacou‐Voutetakis, C. (2014) · Clinical Endocrinology · doi:10.1111/cen.12543 · Cited by 90
Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency
Chen, W., Xu, Z., Sullivan, A., Finkielstain, G. P., Van Ryzin, C., Merke, D. P., & McDonnell, N. B. (2012) · Clinical Chemistry · doi:10.1373/clinchem.2011.174037 · Cited by 86
Self-citationPapadakis, G. E., Kandaraki, E., Tseniklidi, E., Papalou, O., & Diamanti‐Kandarakis, E. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00388 · Cited by 86
Merke, D. P., Chen, W., Morissette, R., Xu, Z., Van Ryzin, C., Sachdev, V., Hannoush, H., Shanbhag, S. M., Acevedo, A. T., Nishitani, M., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-3148 · Cited by 82
Self-citationNandagopal, 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
Self-citationde Carvalho, D. F., Miranda, M. C., Gomes, L. G., Madureira, G., Marcondes, J. A. M., Billerbeck, A. E. C., Rodrigues, A. S., Presti, P. F., Kuperman, H., Damiani, D., et al. (2016) · European Journal of Endocrinology · doi:10.1530/eje-16-0171 · Cited by 75
The next 150 years of congenital adrenal hyperplasia
Turcu, A. F., & Auchus, R. J. (2015) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2015.05.013 · Cited by 69
Riedl, S., Röhl, F.-W., Bonfig, W., Brämswig, J., Richter-Unruh, A., Fricke-Otto, S., Bettendorf, M., Riepe, F., Kriegshäuser, G., Schönau, E., et al. (2019) · Endocrine Connections · doi:10.1530/ec-18-0281 · Cited by 69
Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia
Morissette, R., Chen, W., Perritt, A. F., Dreiling, J. L., Arai, A. E., Sachdev, V., Hannoush, H., Mallappa, A., Xu, Z., McDonnell, N. B., et al. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-2232 · Cited by 68
Self-citationManagement considerations for the adult with congenital adrenal hyperplasia
Auchus, R. J. (2015) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2015.01.039 · Cited by 65
Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome
Miller, W. L., & Merke, D. P. (2018) · Hormone Research in Paediatrics · doi:10.1159/000481911 · Cited by 61
Self-citationComprehensive Mutation Analysis of the CYP21A2 Gene
Xu, Z., Chen, W., Merke, D. P., & McDonnell, N. B. (2013) · The Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2013.06.001 · Cited by 62
Self-citationDisorders of Sex Development of Adrenal Origin
Finkielstain, G. P., Vieites, A., Bergadá, I., & Rey, R. A. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.770782 · Cited by 60
Self-citationAuchus, R. J., Sarafoglou, K., Fechner, P. Y., Vogiatzi, M. G., Imel, E. A., Davis, S. M., Giri, N., Sturgeon, J., Roberts, E., Chan, J. L., et al. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab749 · Cited by 55
Debono, M., Mallappa, A., Gounden, V., Nella, A. A., Harrison, R. F., Crutchfield, C. A., Backlund, P. S., Soldin, S. J., Ross, R. J., & Merke, D. P. (2015) · European Journal of Endocrinology · doi:10.1530/eje-15-0064 · Cited by 53
Self-citationEl‐Maouche, D., Collier, S., Prasad, M., Reynolds, J. C., & Merke, D. P. (2015) · Clinical Endocrinology · doi:10.1111/cen.12507 · Cited by 53
Self-citationCongenital adrenal hyperplasia – pharmacologic interventions from the prenatal phase to adulthood
Claahsen-van der Grinten, H. L., Stikkelbroeck, N. M. M. L., Otten, B. J., & Hermus, A. R. M. M. (2011) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2011.05.004 · Cited by 53
Non-classic congenital adrenal hyperplasia
Witchel, S. F. (2013) · Steroids · doi:10.1016/j.steroids.2013.04.010 · Cited by 52
Nonclassic Congenital Adrenal Hyperplasia
Jha, S., & Turcu, A. F. (2021) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2020.10.008 · Cited by 55
Wang, R., Yu, Y., Ye, J., Han, L., Qiu, W., Zhang, H., Liang, L., Gong, Z., Wang, L., & Gu, X. (2016) · Steroids · doi:10.1016/j.steroids.2016.01.007 · Cited by 47
Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)
Ishii, T., Anzo, M., Adachi, M., Onigata, K., Kusuda, S., Nagasaki, K., Harada, S., Horikawa, R., Minagawa, M., Minamitani, K., et al. (2015) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.24.77 · Cited by 36
Newborn screening for congenital adrenal hyperplasia in New York State
Pearce, M., DeMartino, L., McMahon, R., Hamel, R., Maloney, B., Stansfield, D.-M., McGrath, E. C., Occhionero, A., Gearhart, A., Caggana, M., et al. (2016) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2016.02.005 · Cited by 37
Precursor-to-product ratios reflect biochemical phenotype in congenital adrenal hyperplasia
Hicks, R. A., Yee, J. K., Mao, C. S., Graham, S., Kharrazi, M., Lorey, F., & Lee, W. P. (2013) · Metabolomics · doi:10.1007/s11306-013-0558-1 · Cited by 35
Dumic, K. K., Grubić, Z., Yuen, T., Wilson, R. C., Kuŝec, V., Barišić, I., Štingl, K., Sansović, I., Škrabić, V., Dumić, M., et al. (2016) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2016.03.035 · Cited by 34
Gangodkar, P. V., Khadilkar, V. V., Raghupathy, P., Kumar, R., Dayal, A. A., Dayal, D., Ayyavoo, A., Godbole, T., Jahagirdar, R. R., Bhat, K., et al. (2020) · Endocrine · doi:10.1007/s12020-020-02494-z · Cited by 33
Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia
Ammini, A., Marumudi, E., Sharma, A., Kulshreshtha, B., Khadgawat, R., & Khurana, M. (2012) · Indian Journal of Endocrinology and Metabolism · doi:10.4103/2230-8210.95679 · Cited by 33
Chan, A. O. K., But, W. M., Ng, K. L., Wong, L. M., Lam, Y. Y., Tiu, S. C., Lee, K. F., Lee, C. Y., Loung, P. Y., Berry, I. R., et al. (2011) · Steroids · doi:10.1016/j.steroids.2011.04.010 · Cited by 32
Barbaro, M., Soardi, F. C., Östberg, L. J., Persson, B., de Mello, M. P., Wedell, A., & Lajić, S. (2014) · Clinical Endocrinology · doi:10.1111/cen.12526 · Cited by 31
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Lao, Q., Brookner, B., & Merke, D. P. (2019) · The Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2019.06.001 · Cited by 29
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Ma, D., Chen, Y., Sun, Y., Yang, B. Y., Cheng, J., Huang, M., Zhang, J., Zhang, J., Hu, P., Lin, Y., et al. (2014) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2014.01.019 · Cited by 29
Zhang, B., Lü, L., & Lu, Z. (2017) · Journal of International Medical Research · doi:10.1177/0300060516685204 · Cited by 29
Milacic, I., Barac, M., Milenković, T., Ugrin, M., Klaassen, K., Skakić, A., Jesic, M., Joksić, I., Mitrović, K., Todorovic, S., et al. (2015) · Journal of Endocrinological Investigation · doi:10.1007/s40618-015-0366-8 · Cited by 27
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Guarnotta, V., Niceta, M., Bono, M., Marchese, S., Fabiano, C., Indelicato, S., Gaudio, F. D., Garofalo, P., & Giordano, C. S. D. S. (2019) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2019.105554 · Cited by 28
Turan, I., Tastan, M., Boga, D. D., Gurbuz, F., Kotan, L. D., Tuli, A., & Yüksel, B. (2020) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2019.103782 · Cited by 25
Su, L., Yin, X., Cheng, J., Cai, Y., Wu, D., Feng, Z., & Liu, L. (2018) · Clinica Chimica Acta · doi:10.1016/j.cca.2018.07.039 · Cited by 23
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Skordis, N., Neocleous, V., Shammas, C., Phedonos, A., & Phylactou, L. (2014) · Indian Journal of Endocrinology and Metabolism · doi:10.4103/2230-8210.145077 · Cited by 25
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Sharma, R., & Seth, A. (2013) · The Indian Journal of Pediatrics · doi:10.1007/s12098-013-1280-8 · Cited by 27
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Skordis, N., Shammas, C., Efstathiou, E., Kaffe, K., Neocleous, V., & Phylactou, L. A. (2011) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2011.05.013 · Cited by 23
Dwiggins, M. L., Brookner, B., Fowler, K. G., Veeraraghavan, P., Gomez‐Lobo, V., & Merke, D. P. (2020) · Journal of the Endocrine Society · doi:10.1210/jendso/bvaa131 · Cited by 23
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El‐Maouche, D., Hannah‐Shmouni, F., Mallappa, A., Hargreaves, C. J., Avila, N. A., & Merke, D. P. (2019) · Clinical Endocrinology · doi:10.1111/cen.13996 · Cited by 20
Self-citationYang, M., & White, P. C. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae535 · Cited by 20
Greene, C. N., Cordovado, S. K., Turner, D. P., Keong, L. M., Shulman, D. I., & Mueller, P. W. (2014) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2014.07.002 · Cited by 19
Shammas, C., Neocleous, V., Toumba, M., Costi, C., Phedonos, A., Efstathiou, E., Kyriakou, A., Phylactou, L. A., & Skordis, N. (2012) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2011.0381 · Cited by 18
Chen, W., Xu, Z., Nishitani, M., Van Ryzin, C., McDonnell, N. B., & Merke, D. P. (2012) · Human Genetics · doi:10.1007/s00439-012-1217-8 · Cited by 18
Self-citationKaupert, L., Lemos‐Marini, S., De Mello, M., Moreira, R., Brito, V., Jorge, A., Longui, C., Guerra, G., Mendonca, B., & Bachega, T. (2013) · Clinical Genetics · doi:10.1111/cge.12016 · Cited by 17
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Gurgov, S., Bernabé, K. J., Stites, J., Cunniff, C. M., Lin‐Su, K., Felsen, D., New, M. I., & Poppas, D. P. (2017) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.13370 · Cited by 17
Genetic defects of the CYP21A2 gene in girls with premature adrenarche
Skordis, N., Shammas, C., Phedonos, A., Kyriakou, A., Toumba, M., Neocleous, V., & Phylactou, L. A. (2014) · Journal of Endocrinological Investigation · doi:10.1007/s40618-014-0223-1 · Cited by 17
An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency
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Management of congenital adrenal hyperplasia in childhood
Kim, M. S., Ryabets‐Lienhard, A., & Geffner, M. E. (2012) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0b013e32835a1a1b · Cited by 17
Silva, R. S., Cardoso, R., Lopes, L., Fonseca, M., Espada, F., Sampaio, L., Brandão, C., Antunes, A. L. M. D. S., Bragança, G., Coelho, R. C. L. A., et al. (2019) · Hormone Research in Paediatrics · doi:10.1159/000497485 · Cited by 17
Kim, J. H., Kim, G.-H., Yoo, H., & Choi, J. (2023) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2346108.054 · Cited by 18
Sarafoglou, K., Lorentz, C. P., Otten, N., Oetting, W. S., & Grebe, S. K. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01694.x · Cited by 16
Lao, Q., Mallappa, A., Faucz, F. R., Joyal, E., Veeraraghavan, P., Chen, W., & Merke, D. P. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1556 · Cited by 16
Self-citationMatsubara, K., Kataoka, N., Ogita, S., Sano, S., Ogata, T., Fukami, M., & Katsumata, N. (2014) · Endocrine Journal · doi:10.1507/endocrj.ej13-0509 · Cited by 16
CYP21A2 intronic variants causing 21-hydroxylase deficiency
Concolino, P., Rizza, R., Costella, A., Carrozza, C., Zuppi, C., & Capoluongo, E. (2017) · Metabolism · doi:10.1016/j.metabol.2017.03.003 · Cited by 16
Neocleous, V., Fanis, P., Phylactou, L. A., & Skordis, N. (2018) · Frontiers in Endocrinology · doi:10.3389/fendo.2018.00733 · Cited by 16
Dundar, A., Bayramov, R., Önal, M. G., Akkus, M., Doğan, M. E., Kenanoğlu, S., Güneş, M. C., Kazimli, U., Özbek, M. N., Ercan, O., et al. (2019) · Molecular Biology Reports · doi:10.1007/s11033-019-04809-4 · Cited by 15
Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort
Wang, R., Luo, X., Sun, Y., Liang, L., Mao, A., Lu, D., Zhang, K., Yang, Y., Sun, Y., Sun, M., et al. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae519 · Cited by 14
Toraman, B., Ökten, A., Kalay, E., Karagüzel, G., Dinçer, T., Açıkgöz, E. G., & Karagüzel, A. (2013) · Gene · doi:10.1016/j.gene.2012.10.059 · Cited by 14
Yoo, Y., Chang, M. S., Lee, J., Cho, S. Y., Park, S. W., Jin, D., & Park, H. (2013) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2013.18.3.128 · Cited by 14
Disorders of the adrenal cortex: Genetic and molecular aspects
Pitsava, G., Maria, A. G., & Faucz, F. R. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.931389 · Cited by 13
Uniparental disomy as a cause of pediatric endocrine disorders
Matsubara, K., Kagami, M., & Fukami, M. (2018) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.27.113 · Cited by 14
Lao, Q., Jardin, M. D., Jayakrishnan, R., Ernst, M., & Merke, D. P. (2018) · Human Genetics · doi:10.1007/s00439-018-1959-z · Cited by 12
Self-citationMoura-Massari, V. O., Cunha, F. S., Gomes, L. G., Gomes, D. B. D., Marcondes, J. A. M., Madureira, G., Mendonca, B. B., & Bachega, T. A. S. S. (2016) · PLoS ONE · doi:10.1371/journal.pone.0148548 · Cited by 13
An Investigation of Steroid Biosynthesis Pathway Genes in Women with Polycystic Ovary Syndrome
Sharma, P., Jain, M., & Halder, A. (2022) · Journal of Human Reproductive Sciences · doi:10.4103/jhrs.jhrs_86_22 · Cited by 12
Zhang, X., Gao, Y., Lü, L., Cao, Y., Zhang, W., Sun, B., Wu, X., Tong, A., Chen, S., Wang, X., et al. (2023) · Journal of Endocrinological Investigation · doi:10.1007/s40618-023-02197-y · Cited by 12
Lan, T., Jin, W., Chen, K., Zhang, J., Chen, X., & Yao, H. J. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1472516 · Cited by 12
Wang, Y., Zhu, G., Li, D., Pan, Y., Li, R., Zhou, T., Mao, A., Chen, L., Zhu, J., & Zhu, M. (2025) · Human Genomics · doi:10.1186/s40246-024-00696-4 · Cited by 12
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: genotype-phenotype correlation].
Mendes, C., Matos, I. V., Ribeiro, L., Oliveira, M. J., Cardoso, H., & Borges, T. (2015) · PubMed · Cited by 11
A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia
Mohamed, S., El-Kholy, S., Al-Juryyan, N., Alnemri, A. M., & Abu‐Amero, K. K. (2015) · Saudi Medical Journal · doi:10.15537/smj.2015.1.9697 · Cited by 11
Metadata
- Authors
- Finkielstain, G. P., Chen, W., Mehta, S. P., Fujimura, F. K., Hanna, R. M., Van Ryzin, C., McDonnell, N. B., & Merke, D. P.
- Affiliations
- National Institutes of Health (US)
- National Institute on Aging (US)
- Esoterix, Inc. (F.K.F.), Calabasas Hills, California 91301
- The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Clinical Center (S.P.M., R.M.H., C.V.R., D.P.M.), National Institutes of Health, Bethesda, Maryland 20892
- Corresponding author
- Merke, Deborah P.
- ORCID
- Merke, Deborah P.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2011-01-01
- Volume
- 96
- Issue
- 1
- Pages
- E161-E172
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- PMC
- PMC3038490
- OpenAlex
- W2117425767
- Cited by
- 192
- References
- 63
- Citations by year
- 2026: 7 · 2025: 12 · 2024: 12 · 2023: 10 · 2022: 12 · 2021: 15 · 2020: 11 · 2019: 15 · 2018: 11 · 2017: 9 · 2016: 11 · 2015: 12 · 2014: 12 · 2013: 17 · 2012: 14
- FWCI
- 5.34
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- CARES Foundation
- National Institutes of Health
- U.S. Public Health Service
- National Institute of Child Health and Human Development
- NIH Clinical Center
- Eunice Kennedy Shriver National Institute of Child Health and Human Development
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital adrenal hyperplasia, 21-hydroxylase deficiency, CYP21A2 mutations, novel mutations, compound heterozygosity, copy number variation, uniparental disomy, de novo mutations, genotype-phenotype correlation, salt-wasting CAH, simple virilizing CAH
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Adult, Aged, Alleles, Child, Child, Preschool, DNA Mutational Analysis, Female, Genetic Testing, Genotype, Humans, Infant, Male, Middle Aged, Mutation, Phenotype, Steroid 21-Hydroxylase, United States, Blotting, Southern, Reverse Transcriptase Polymerase Chain Reaction, Genetic Association Studies
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