The DOI matches its Crossref record; 57 of the 63 references it cites were found in a registry or an index.
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
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.
In the citing paper
“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.
In the citing paper
“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]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“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]
The cited source says what the claim attributes to it.
In the citing paper
“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]
The cited source says what the claim attributes to it.
In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
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
Items 101–191 of 191
Fanis, P., Neocleous, V., Kosta, K., Karipiadou, A., Hartmann, M. F., Wudy, S. A., Karantaglis, N., Papadimitriou, D. T., Skordis, N., Tsikopoulos, G., et al. (2021) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2020-0245 · Cited by 10
Dagalakis, U., Mallappa, A., Elman, M., Quezado, M., & Merke, D. P. (2016) · International Journal of Pediatric Endocrinology · doi:10.1186/s13633-016-0028-4 · Cited by 10
Self-citationZhang, R., Cui, D., Song, C., Ma, X., Cai, N., Zhang, Y., Feng, M., Cao, Y., Chen, L., & Qiang, R. (2024) · Clinica Chimica Acta · doi:10.1016/j.cca.2024.117820 · Cited by 10
Witchel, S. F., & Plant, T. M. (2013) · Elsevier eBooks · doi:10.1016/b978-1-4557-2758-2.00018-4 · Cited by 10
Ravichandran, L., Korula, S., Asha, H. S., Varghese, D., Parthiban, R., Johnson, J., Ishwarya, J., Shetty, S., Cherian, K. E., Jebasingh, F., et al. (2021) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2021.104369 · Cited by 9
Jayakrishnan, R., Lao, Q., Adams, S. D., Ward, W. W., & Merke, D. P. (2018) · Gene · doi:10.1016/j.gene.2018.11.023 · Cited by 9
Self-citationShaikh, A. M. A., Alghanmi., Y., Awidah, S., Bahha, A., Ahmed, M., & Soliman, A. T. (2019) · Indian Journal of Endocrinology and Metabolism · doi:10.4103/ijem.ijem_99_19 · Cited by 9
Analysis of phenotypes and genotypes in 84 patients with 21-Hydroxylase deficiency in southern China
Hou, L., Liang, L., Lin, S., Ou, H., Liu, Z., Huang, S., Zhang, L., & Meng, Z. (2019) · Steroids · doi:10.1016/j.steroids.2019.108474 · Cited by 9
Šáhó, R., Dolžan, V., Tanšek, M. Ž., Pastorakova, A., Petrovič, R., Knapková, M., Podkrajšek, K. T., Omladič, J. Š., Bertok, S., Stefanija, M. A., et al. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1134133 · Cited by 10
Lao, Q., Burkardt, D. D., Kollender, S., Faucz, F. R., & Merke, D. P. (2023) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2195 · Cited by 8
Self-citationElmougy, F., Elsharkawy, M., Hafez, M. M., ELatty, S. A., Baz, H., Ibrahim, A. M., Soliman, H. M. A. L., Ekladious, S., Abdullatif, M., Thabet, G. M., et al. (2020) · Journal of Endocrinological Investigation · doi:10.1007/s40618-020-01271-z · Cited by 9
Genetics of adrenocortical disease
Bar-Lev, A., & Annes, J. P. (2012) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0b013e328352f013 · Cited by 8
Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia
Navardauskaitė, R., Banevičiūtė, K., Songailienė, J., Grigalionienė, K., Čereškevičius, D., Šukys, M., Mockevičienė, G., Smirnova, M., Utkus, A., & Verkauskienė, R. (2021) · Medicina · doi:10.3390/medicina57101035 · Cited by 8
Genome editing in the adrenal gland: a novel strategy for treating congenital adrenal hyperplasia
van Dijk, E. B., Ginn, S. L., Alexander, I. E., & Graves, L. E. (2024) · Exploration of Endocrine and Metabolic Diseases · doi:10.37349/eemd.2024.00011 · Cited by 8
Nouveautés dans l’hyperplasie congénitale des surrénales
Dumeige, L., Bouvattier, C. M., & Lombès, M. (2017) · Annales d Endocrinologie · doi:10.1016/s0003-4266(17)30922-8 · Cited by 7
Hiperplasia Congénita da Suprarrenal por Deficiência de 21-Hidroxílase: Correlação Genótipo-Fenótipo
Mendes, C., Matos, I. V., Ribeiro, L., Oliveira, M. J., Cardoso, H., & Borges, T. (2015) · Acta Médica Portuguesa · doi:10.20344/amp.5579 · Cited by 11
Lao, Q., Schulman, A., Kulkarni, S., Kollender, S., Bick, D., Moon, A., Burkardt, D. D., & Merke, D. P. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaf546 · Cited by 6
Self-citationLiang, D., Zhu, M., Liang, Q., Qiang, R., Yu, L., Xu, S., Li, M., Song, J., Zhou, Y., He, X., et al. (2025) · Genome Medicine · doi:10.1186/s13073-025-01594-7 · Cited by 8
Ermakhanova, T., Bazarbekovna, B. R., Svyatova, G., & Kassimbekovna, D. A. (2022) · Clinical Endocrinology · doi:10.1111/cen.14859 · Cited by 6
Nan, M. N., Roig, R., Martínez, S., Rives, J., Urgell, E., Espinós, J. J., Tirado-Capistros, M., Carreras, G., Aulinas, A., Webb, S. M., et al. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10061183 · Cited by 7
Genetic characterization of a large cohort of Argentine 21‐hydroxylase Deficiency
Fernández, C. S., Taboas, M., Bruque, C. D., Benavides‐Mori, B., Belli, S., Stivel, M., Oneto, A., Pasqualini, T., Delea, M., Espeche, L. D., et al. (2020) · Clinical Endocrinology · doi:10.1111/cen.14190 · Cited by 7
Witchel, S. F., & Lee, P. A. (2014) · Elsevier eBooks · doi:10.1016/b978-1-4557-4858-7.00014-7 · Cited by 5
Kollahi, N. A., Rohani, F., Baghbani, F., & Shojaei, A. (2019) · Iranian Journal of Pediatrics · doi:10.5812/ijp.91994 · Cited by 5
CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica
Umaña-Calderón, A., Acuña-Navas, M. J., Alvarado, D., Jiménez‐Hernández, M., & Aita, F. C. (2021) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2021.100728 · Cited by 5
Malíková, J., Votava, F., Vrzalová, Z., Lebl, J., & Cinek, O. (2012) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2012.04358.x · Cited by 5
Fanis, P., Skordis, N., Phylactou, L. A., & Neocleous, V. (2023) · HORMONES · doi:10.1007/s42000-022-00410-w · Cited by 4
Graves, L. E., Viswanath, L., van Dijk, E. B., Zhu, E., Koyyalamudi, S. R., Wotton, T., Rosser, S. P. A., Srinivasan, S., Ginn, S. L., & Alexander, I. E. (2025) · Molecular Therapy · doi:10.1016/j.ymthe.2025.11.011 · Cited by 4
Nonclassic Adrenal Hyperplasia (NCAH) due to 21-hydroxylase deficiency: A cohort of 78 patients
Wan, Z., Wang, W., Zheng, S., Han, R., Xie, X., Zhao, Y., Wang, W., Sun, S., & Ye, L. (2022) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2022.106192 · Cited by 4
Tan, J., Jin, S., Huang, L., Shao, B., Wang, Y., Wang, Y., Zhang, J., Su, M., Tan, J., Cheng, Q., et al. (2024) · Heliyon · doi:10.1016/j.heliyon.2024.e38222 · Cited by 4
Hubska, J., Kępczyńska‐Nyk, A., Czady-Jurszewicz, K., & Ambroziak, U. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12020653 · Cited by 7
Reyes, T. M. E., Mesa, T. C., Cruz, P. A. L., Machado, A. A., Alonso, E. D., & Falhammar, H. (2021) · International Journal of Endocrinology · doi:10.1155/2021/9316284 · Cited by 5
Sanctis, V. D., Clemente, S., Gallotta, M. C., Filati, G., Fiscina, B., Marsciani, A., PIACENTINI, G. L., Timoncini, G., Reggiani, L., Zucchini, A., et al. (2012) · PubMed · Cited by 3
Endocrine Disturbances Affecting Reproduction
Chang, A. Y., & Auchus, R. J. (2013) · Elsevier eBooks · doi:10.1016/b978-1-4557-2758-2.00025-1 · Cited by 3
Assessing the risk of having a child with classic 21-hydroxylase deficiency: a new paradigm
Ilany, J., & Cohen, O. (2021) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2021.04.007 · Cited by 3
Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population
Mahmoud, R. A. A., Amr, N. H., Toaima, N. N., Kamal, T. M., & Elsedfy, H. H. (2021) · Journal of Endocrinological Investigation · doi:10.1007/s40618-021-01648-8 · Cited by 3
Endocrine Disturbances Affecting Reproduction
Chang, A. Y., & Auchus, R. J. (2019) · Elsevier eBooks · doi:10.1016/b978-0-323-47912-7.00024-x · Cited by 4
Frontera, E. D., Brown, J. J., Ghareebian, H., & Mariash, C. N. (2022) · AACE Clinical Case Reports · doi:10.1016/j.aace.2022.10.003 · Cited by 3
Lao, Q., & Merke, D. P. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab280 · Cited by 3
Self-citationPseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X
Lao, Q., Zhou, K., Parker, M., Faucz, F. R., & Merke, D. P. (2023) · Genes · doi:10.3390/genes14020265 · Cited by 1
Self-citationMiranda, M. C. D., Oliveira, A. C. M. D., Soares, G. J., Batatinha, J. A. P., Latronico, A. C., Mendonca, B. B., & Bachega, T. A. S. S. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1770274 · Cited by 2
“Reported concordance rates range from 97-100% in null genotypes and 79-96% in A genotypes associated with the SW form, 53-87% in B genotypes associated with the SV form, and 65-100% in C genotypes with the NC form (19, 26, 31, 35, 47).”
InfluentialXia, Y., Yu, F., Bai, Y., Jiang, L., Shi, P., Jiang, Z., & Kong, X. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03414-4 · Cited by 2
Ataş, N., Karaoğlan, M., & Nacarkahya, G. (2025) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.70110 · Cited by 3
Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia
Graves, L. E., Christina, S., Mullany, K., Alexander, I. E., & Falhammar, H. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2025.1719376 · Cited by 2
Caracterización de una cohorte de pacientes pediátricos con Hiperplasia Suprarrenal Congénita
Ayala, D. V. S., Bello, E. M., Niño-Serna, L. F., & Toro, M. (2022) · Andes pediatrica · doi:10.32641/andespediatr.v93i4.4003 · Cited by 2
Hosomi, S. S., Salles, I. C., & Bachega, T. A. S. S. (2023) · Archives of Endocrinology and Metabolism · doi:10.20945/2359-3997000000593 · Cited by 4
Podgórski, R., Podgórska, D., & Sumińska, M. (2023) · Pediatria Polska · doi:10.5114/polp.2023.133534 · Cited by 1
Ravichandran, L., Asha, H. S., Mathai, S., Thomas, N., & Chapla, A. (2024) · Indian Journal of Endocrinology and Metabolism · doi:10.4103/ijem.ijem_303_23 · Cited by 3
Geographical Endocrinology of Genetic Steroid Disorders
Reisch, N., & Kuhnle, U. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-416006-4.00029-6 · Cited by 2
46,XX Disorders of Sex Development
Warne, G. L., & Hewitt, J. K. (2011) · Springer eBooks · doi:10.1007/978-3-642-22964-0_6 · Cited by 2
Herodež, Š. S., Fijavž, L., Zagradišnik, B., & Vokač, N. K. (2015) · Balkan Journal of Medical Genetics · doi:10.1515/bjmg-2015-0082 · Cited by 2
Endocrine Disturbances Affecting Reproduction
Chang, A. Y., & Auchus, R. J. (2009) · Elsevier eBooks · doi:10.1016/b978-1-4160-4907-4.00023-1 · Cited by 2
Iezzi, M. L., Varriale, G., Zagaroli, L., Lasorella, S., Greco, M., Iapadre, G., & Verrotti, A. (2020) · Journal of Pediatric Genetics · doi:10.1055/s-0040-1705110 · Cited by 3
Kurzyńska, A., Skalniak, A., Franson, K., Bistika, V., Hubalewska–Dydejczyk, A., & Przybylik‐Mazurek, E. (2022) · HORMONES · doi:10.1007/s42000-022-00348-z · Cited by 3
Molecular Genetics of 21‐Hydroxylase Deficiency
Parajes, S., & Krone, N. P. (2014) · Wiley eBooks · doi:10.1002/9780470015902.a0023845 · Cited by 2
Pignatelli, D., & Pereira, S. S. (2021) · Springer eBooks · doi:10.1007/978-3-030-82591-1_2 · Cited by 1
Bindellini, D., Michelet, R., Mirasbekov, Y., Lao, Q., Sukin, C., Huisinga, W., Merke, D. P., & Kloft, C. (2025) · CPT Pharmacometrics & Systems Pharmacology · doi:10.1002/psp4.70086 · Cited by 1
Self-citationIntegrated mapping resolves pathogenicity of 11 CYP21A2 variants in congenital adrenal hyperplasia
Xu, Y., Matveeva, A., Jørgensen, F. S., & Pandey, A. V. (2026) · Journal of the Endocrine Society · doi:10.1210/jendso/bvag127 · Cited by 1
Chaurasia, A., Shukla, A., Pande, S., Purushothama, G., Ashokan, A. K., Majethia, P., Kaur, N., Upadhyai, P., Quadri, N., Bhavani, G. S., et al. (2026) · European Journal of Human Genetics · doi:10.1038/s41431-026-02158-y · Cited by 2
Genetics of Congenital Adrenal Hyperplasia
Krone, N. P. (2022) · doi:10.1093/med/9780198870197.003.0104 · Cited by 1
Nácul, A. P., Silva, A. C. J. D. S. R. E., Yela, D. A., de Medeiros, S. F., Soares, J. M., Rezende, G. P., Damásio, L. C. V. D. C., Maranhão, T. M. D. O., Maciel, G. A. R., & Benetti‐Pinto, C. L. (2024) · Femina · doi:10.61622/rbgo/2024fps11 · Cited by 1
Genotype in the diagnosis of 21-hydroxylase deficiency: who should undergo CYP21A2 analysis?
Cavarzere, P., Vincenzi, M., Teofoli, F., Gaudino, R., Lauriola, S., Maines, E., Camilot, M., & Antoniazzi, F. (2013) · PubMed · doi:10.3275/9096 · Cited by 1
Hiperplasia adrenal congénita por déficit de 21 hidroxilasa: un reto diagnóstico y terapéutico
Latorre, S. I., Garzón, C., Manosalva, G., Merchán, S., Jacomussi-Alzate, L., & Maldonado, S. (2016) · Revista Repertorio de Medicina y Cirugía · doi:10.1016/j.reper.2016.05.001 · Cited by 1
Congenital Adrenal Hyperplasia (CAH): Definition and Enzymatic Defects in Various Forms
Keleştimur, F., & Ünlühızarcı, K. (2021) · Springer eBooks · doi:10.1007/978-3-030-82591-1_1 · Cited by 2
Ivo, C. R., Fitas, A. L., Madureira, I., Diamantino, C., Gomes, S., Gonçalves, J., & Lopes, L. (2022) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2022-0396 · Cited by 1
Molecular Genetics of Congenital Adrenal Hyperplasia
Parajes, S., & Krone, N. P. (2012) · Wiley eBooks · doi:10.1002/9780470015902.a0023590 · Cited by 1
Kaupert, L. C. (2012) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.5.2012.tde-19122012-120012
Perspectives in Pediatric Pathology, Chapter 22. Testicular Involvement in Systemic Diseases
Nistal, M., Paniagua, R., González‐Peramato, P., & Reyes‐Múgica, M. (2014) · Pediatric and Developmental Pathology · doi:10.2350/14-09-1556-pb.1
Análise de genes moduladores do fenótipo da forma não clássica da deficiência da 21-hidroxilase
Moura, V. O. (2011) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.5.2011.tde-25082011-153332
The Diagnosis of Polycystic Ovary Syndrome during Adolescence
Marina, P., & Beirut, L. (2016)
Genetic Disorders of the Adrenal Gland
Lin‐Su, K., Lekarev, O., & New, M. I. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00091-4
Barseem, N. F. (2016) · International Journal of Endocrinology and Metabolic Disorders · doi:10.16966/2380-548x.121
Application of Pharmacometrics to Rare Diseases
AHMED, M. A. (2016) · University of Minnesota Digital Conservancy (University of Minnesota)
Problems of neonatal screening on congenital adrenal hyperplasia
Zelinska, N., Погадаєва, Н. Л., Вікторівна, Г. Є., Ніфонтова, Л. В., & Орлова, Т. О. (2013) · Clinical endocrinology and endocrine surgery · doi:10.24026/1818-1384.2(43).2013.77677
Chernova, G. V., Sidorov, P. V., Ergolskaya, N. V., Timofeeva, M. A., Petrosyan, V. V., & Shiryaeva, L. V. (2019) · CONFERENCE MATERIALS · doi:10.18411/sr-10-04-2019-54
O’Connell, M. A., Grover, S. R., & Bouty, A. (2020) · Springer eBooks · doi:10.1007/978-981-13-7864-5_6
de Miranda, M. C. (2020) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.5.2020.tde-29102020-162042
(2012) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0b013e3283542fb3
КЛІНІЧНИЙ ВИПАДОК АДРЕНОГЕНІТАЛЬНОГО СИНДРОМУ
Yerokhovych, V., & Bobryk, M. L. (2017) · Ukrainian Scientific Medical Youth Journal · doi:10.32345/usmyj.1(99).2017.27-30
Geographical endocrinology of genetic steroid disorders
Reisch, N., & Kuhnle, U. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-821424-4.00024-1
Disorders of Adrenal Steroid Biosynthesis Defects
He, X., & Auchus, R. J. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-822563-9.00216-x
Update on prenatal diagnosis and treatment of congenital adrenal hyperplasia
Westeinde, A. V., Nordenström, A., & Lajić, S. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00183-7
Nguyen, K. N., Dang, G. T. K., Can, N. T. B., Điền, T. M., Bui, T. P., Phuong, M. N. T., Pham, H. T., Ngo, N. D., & Vu, D. C. (2025) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2448292.146
Teasdale, S., Joshi, K., Huynh, T., & Conwell, L. S. (2025) · Internal Medicine Journal · doi:10.1111/imj.70174
Molavi, N., Aghaei, S., Hoseinzadeh, M., Khanahmad, H., Hashemipour, M., & Tabatabaiefar, M. A. (2025) · Current Genetic Medicine Reports · doi:10.1007/s40142-025-00218-1
High-Resolution Genetic Analysis in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Yang, M., & White, P. C. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaf628
21‐Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy
Kluge, M. L., Schema, L., Schroepfer, K., Thoreson, E. K., Sarafoglou, K., Rowsey, R. A., Marcou, C. A., Moyer, A. M., & Schultz, M. J. (2026) · Case Reports in Endocrinology · doi:10.1155/crie/3596318
Genetic characteristics and clinical features of pediatric congenital adrenal hyperplasia in Korea
Kim, I., Cho, M. H., Lee, Y. A., Lee, Y. J., Cheon, C. K., Suh, J., Moon, J.-E., Kim, C. J., Lim, H. H., Ahn, M. B., et al. (2026) · Endocrine · doi:10.1007/s12020-026-04718-0
The evolution of new approaches to the treatment of congenital adrenal hyperplasia
Merke, D. P., & Auchus, R. J. (2026) · Endocrine Reviews · doi:10.1210/endrev/bnag033
Self-citationSzklarz, M., Wołos-Kłosowicz, K., Szulc, J., Górny, J. M., & Matuszewski, W. (2026) · Middle East Fertility Society Journal · doi:10.1186/s43043-026-00364-8
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
