Cited by 397Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

The DOI matches its Crossref record; 36 of the 49 references it cites were found in a registry or an index.

Predicting Phenotype in Steroid 21-Hydroxylase Deficiency? Comprehensive Genotyping in 155 Unrelated, Well Defined Patients from Southern Germany

Krone, Nils, Braun, Andreas, Roscher, Adelbert Anton, Knorr, Dietrich, Schwarz, Hans Peter·2000·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jcem.85.3.6441

Open this paper in CoChat — free account

Abstract

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders. CAH is most often caused by deficiency of steroid 21-hydroxylase. The frequency of CYP21-inactivating mutations and the genotype-phenotype relationship were characterized in 155 well defined unrelated CAH patients. We were able to elucidate 306 of 310 disease-causing alleles (diagnostic sensitivity, 98.7%). The most frequent mutation was the intron 2 splice site mutation (30.3%), followed by gene deletions (20.3%), the I172N mutation (19.7%) and large gene conversions (7.1%). Five point mutations were detected that have not been described in other CAH cohorts. Genotypes were categorized in 4 mutation groups (null, A, B, and C) according to their predicted functional consequences and compared to the clinical phenotype. The positive predictive value for null mutations (ppvnull) was 100%, as all patients with these mutations had a salt-wasting phenotype. In mutation group A (intron 2 splice site mutation in homozygous or heterozygous form with a null mutation), the ppvA to manifest with salt-wasting CAH was 90%. In group B predicted to result in simple virilizing CAH (I172N in homozygous or compound heterozygous form with a more severe mutation), ppvB was 74%. In group C (P30L, V281L, P453S in homozygous or compound heterozygous form with a more severe mutation), ppvC was 64.7% to exhibit the nonclassical form of CAH, but 90% when excluding the P30L mutation. Thus, in general, a good genotype-phenotype relationship is shown in patients with either the severest or the mildest mutations. A considerable degree of divergence is observed within mutation groups of intermediate severity. As yet undefined factors modifying 21-hydroxylase gene expression and steroid hormone action are likely to account for these differences in phenotypic expression.

Integrity signals

Registry

Crossref · 10.1210/jcem.85.3.6441

Cites

36 of 36 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

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 Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
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
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Speiser, 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
Structure of human steroid 21-hydroxylase genes.
White, P. C., New, M. I., & Dupont, B. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.14.5111 · Cited by 569
Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.
Higashi, Y., Yoshioka, H., Yamane, M., Gotoh, O., & Fujii-Kuriyama, Y. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.9.2841 · Cited by 555
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
Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man
White, P. C., Grossberger, D., Onufer, B. J., Chaplin, D. D., New, M. I., Dupont, B., & Strominger, J. L. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.4.1089 · Cited by 490
Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels
Kuivaniemi, H., Tromp, G., & Prockop, D. J. (1997) · Human Mutation · doi:10.1002/(sici)1098-1004(1997)9:4 · Cited by 371
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
Wedell, A. (1994) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.78.5.1145 · Cited by 370
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

Show all 49 references

Research works printed but not linked: 1

Donohoue, 1995, 7, 2929

Sorted by citations

Items 101–200 of 395

Alterations in Lipid and Carbohydrate Metabolism in Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Zimmermann, A., Grigorescu‐Sido, P., Alkhzouz, C., Patberg, K., Bucerzan, S., Schulze, E., Zimmermann, T., Rossmann, H., Geiss, H. C., Lackner, K. J., et al. (2010) · Hormone Research in Paediatrics · doi:10.1159/000313368 · Cited by 38
Pregnancy in Congenital Adrenal Hyperplasia
Reisch, N. (2019) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2019.05.011 · Cited by 37
Carboxyl-Terminal Mutations in 3β-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia
Welzel, M., Wüstemann, N., Ŝimić-Schleicher, G., Dörr, H. G., Schulze, E., Shaikh, G., Clayton, P., Grötzinger, J., Holterhus, P., & Riepe, F. G. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-1874 · Cited by 36
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
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene
Barbaro, M., Baldazzi, L., Balsamo, A., Lajić, S., Robins, T., Barp, L., Pirazzoli, P., CACCIARI, E., Cicognani, A., & Wedell, A. (2006) · Journal of Molecular Medicine · doi:10.1007/s00109-006-0043-7 · Cited by 35
Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia
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
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India
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
False negative 17-hydroxyprogesterone screening in children with classical congenital adrenal hyperplasia
Schreiner, F., Brack, C., Salzgeber, K., Vorhoff, W., Woelfle, J., & Gohlke, B. C. (2007) · European Journal of Pediatrics · doi:10.1007/s00431-007-0505-0 · Cited by 35
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis
Grischuk, Y., Rubtsov, P., Riepe, F. G., Grötzinger, J., Beljelarskaia, S., Prassolov, V., Kalintchenko, N., Semitcheva, T., Peterkova, V., Tiulpakov, A., et al. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0777 · Cited by 33
Self-citation
Effects of androgen excess and glucocorticoid exposure on bone health in adult patients with 21-hydroxylase deficiency
Auer, M. K., Paizoni, L., Hofbauer, L. C., Rauner, M., Chen, Y., Schmidt, H., Huebner, A., Bidlingmaier, M., & Reisch, N. (2020) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2020.105734 · 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
Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein
Janner, M., Pandey, A. V., Mullis, P. E., & Flück, C. E. (2006) · European Journal of Endocrinology · doi:10.1530/eje.1.02172 · Cited by 33
21-Hydroxylase and 11β-Hydroxylase Mutations in Romanian Patients with Classic Congenital Adrenal Hyperplasia
Grigorescu-Sido, A., Weber, M. M., Sido, P. G., Clausmeyer, S., Heinrich, U., & Schulze, E. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-0379 · Cited by 33
Molecular Diagnosis of CYP21 Mutations in Congenital Adrenal Hyperplasia
Speiser, P. (2001) · American Journal of PharmacoGenomics · doi:10.2165/00129785-200101020-00003 · Cited by 33
Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients
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
21-hydroxylase deficiency: an exemplary model of the contribution of molecular biology in the understanding and management of the disease
Forest, M. G., Tardy, V., Nicolino, M. P., David, M., & Morel, Y. (2005) · Annales d Endocrinologie · doi:10.1016/s0003-4266(05)81754-8 · Cited by 32
Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients
Minutolo, C., Nadra, A. D., Fernández, C. S., Taboas, M., Buzzalino, N. D., Casali, B., Belli, S., Charreau, E. H., Alba, L. G., & Daín, L. (2011) · PLoS ONE · doi:10.1371/journal.pone.0015899 · Cited by 33
Cardiovascular health, growth and gonadal function in children and adolescents with congenital adrenal hyperplasia
Mooij, C. F., Webb, E. A., der Grinten, H. L. C., & Krone, N. P. (2016) · Archives of Disease in Childhood · doi:10.1136/archdischild-2016-311910 · Cited by 31
Self-citation
In vitro functional studies of rare CYP 21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia
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
Congenital Adrenal Hyperplasia: The Molecular Basis of 21-Hydroxylase Deficiency in H-2aw18 Mice
Riepe, F. G., Tatzel, S., Sippell, W. G., Pleiss, J., & Krone, N. P. (2005) · Endocrinology · doi:10.1210/en.2004-1563 · Cited by 31
Self-citation
Mutation Analysis of the CYP21A2 Gene in the Iranian Population
Rabbani, B., Mahdieh, N., Ashtıani, M. T. H., Larijani, B. A., Akbari, M. T., New, M. I., Parsa, A. A., Schouten, J. P., & Rabbani, A. (2011) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2011.0099 · Cited by 30
Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency
Xu, C., Jia, W., Cheng, X., Ying, H., Chen, J., Xu, J., Guan, Q., Zhou, X., Zheng, D., Li, G., et al. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.671 · Cited by 29
Update: Prenatal Diagnosis for Congenital Adrenal Hyperplasia in 595 Pregnancies
New, M. I., Carlson, A. D., Obeid, J. S., Marshall, I. H., Cabrera, M. S., Goseco, A., Lin‐Su, K., Putnam, A. S., Wei, J., & Wilson, R. C. (2003) · The Endocrinologist · doi:10.1097/01.ten.0000081685.21823.46 · Cited by 29
Identification of Frequency and Distribution of the Nine Most Frequent Mutations among Patients with 21-Hydroxylase Deficiency in Turkey
Sadeghi, F., Yurur-Kutlay, N., Berberoğlu, M., Çetinkaya, E., Aycan, Z., Kara, C., Ruhi, H. I., Öçal, G., Şıklar, Z., Elhan, A. H., et al. (2008) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2008.21.8.781 · Cited by 28
Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype–phenotype correlations
Zhang, B., Lü, L., & Lu, Z. (2017) · Journal of International Medical Research · doi:10.1177/0300060516685204 · Cited by 29
Outcome of Newborn Screening for Congenital Adrenal Hyperplasia at Two Time Points
Eshragh, N., Doan, L. V., Connelly, K. J., Denniston, S., Willis, S., & LAFRANCHI, S. H. (2020) · Hormone Research in Paediatrics · doi:10.1159/000508075 · Cited by 28
Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations
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
Challenges in the diagnosis and management of disorders of sex development
KUTNEY, K. A., Konczal, L. L., Kaminski, B. A., & Uli, N. K. (2016) · Birth Defects Research Part C Embryo Today Reviews · doi:10.1002/bdrc.21147 · Cited by 27
Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia
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
21-Hydroxylase deficiency: Mutational spectrum and Genotype–Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification
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
Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses
Nguyen, H.-H., Hannemann, F., Hartmann, M. F., Małunowicz, E., Wudy, S. A., & Bernhardt, R. (2010) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2010.04.016 · Cited by 25
Molecular Defects of the CYP21A2 Gene in Greek-Cypriot Patients with Congenital Adrenal Hyperplasia
Skordis, N., Kyriakou, A., Tardy, V., Ioannou, Y. S., Varvaresou, A., Dracopoulou, M., Patsalis, P. C., Shammas, C., Neocleous, V., & Phylactou, L. A. (2010) · Hormone Research in Paediatrics · doi:10.1159/000320040 · Cited by 25
CYP21 mutations in simple virilizing congenital adrenal hyperplasia
Lajić, S., Robins, T., Krone, N. P., Schwarz, H. P., & Wedell, A. (2001) · Journal of Molecular Medicine · doi:10.1007/s001090100261 · Cited by 26
Self-citation
Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Kocova, M., Anastasovska, V., & Falhammar, H. (2020) · Endocrine · doi:10.1007/s12020-020-02323-3 · Cited by 24
Prenatal Diagnosis of Congenital Adrenal Hyperplasia
Yau, M., Khattab, A., & New, M. I. (2016) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2016.01.001 · Cited by 24
Mineralocorticoid Deficiency and Treatment in Congenital Adrenal Hyperplasia
Padidela, R., & Hindmarsh, P. C. (2010) · International Journal of Pediatric Endocrinology · doi:10.1155/2010/656925 · Cited by 36
Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations
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
Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency
New, M. I., Lekarev, O., Mancenido, D., Parsa, A. A., & Yuen, T. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-416006-4.00003-x · Cited by 24
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene
Carvalho, B., Marques, C. J., Silva, R. S., Fontoura, M., Carvalho, D. M., & Carvalho, F. (2020) · Experimental and Clinical Endocrinology & Diabetes · doi:10.1055/a-1108-1419 · Cited by 25
Substitution therapy in adult patients with congenital adrenal hyperplasia
Reisch, N. (2014) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2014.11.002 · Cited by 23
No Correlation between Androgen Receptor CAG and GGN Repeat Length and the Degree of Genital Virilization in Females with 21-Hydroxylase Deficiency
Welzel, M., Schwarz, H., Hedderich, J., Dörr, H. G., Binder, G., Brämswig, J., Krude, H., Richter-Unruh, A., Niedziela, M., Gromoll, J., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-1338 · Cited by 23
Self-citation
of Some New Heterocyclic Schiff Bases Derived from Thiocarbohydrazide
El‐mahdy, K. M., El‐Kazak, A. M., Abdel‐Megid, M., Seada, M., & Farouk, O. (2016) · Acta chimica slovenica · doi:10.17344/acsi.2015.1555 · Cited by 23
Not All Amino Acid Substitutions of the Common Cluster E6 Mutation inCYP21Cause Congenital Adrenal Hyperplasia
Robins, T., Barbaro, M., Lajić, S., & Wedell, A. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1937 · Cited by 23
Low TSH Congenital Hypothyroidism: Identification of a Novel Mutation of the TSH beta-Subunit Gene in One Sporadic Case (C85R) and of Mutation Q49stop in Two Siblings with Congenital Hypothyroidism
Sertedaki, A., Papadimitriou, A., Voutetakis, A., Dracopoulou, M., Maniati-Christidi, M., & Dacou‐Voutetakis, C. (2002) · Pediatric Research · doi:10.1203/00006450-200212000-00020 · Cited by 24
Future Directions for Adrenal Insufficiency: Cellular Transplantation and Genetic Therapies
Graves, L. E., Torpy, D. J., Coates, P. T., Alexander, I. E., Bornstein, S. R., & Clarke, B. M. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgac751 · Cited by 23
Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia
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
An Androgen Receptor Gene Mutation (E653K) in a Family with Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency as well as in Partial Androgen Insensitivity
Giwercman, Y. L., Nordenskjöld, A., Ritzén, E. M., Nilsson, K. O., Ivarsson, S. A., Grandell, U., & Wedell, A. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.6.8518 · Cited by 22
11-oxygenated androgens and their relation to hypothalamus-pituitary-gonadal-axis disturbances in adults with congenital adrenal hyperplasia
Auer, M. K., Paizoni, L., Neuner, M., Lottspeich, C., Schmidt, H., Bidlingmaier, M., Hawley, J. M., Keevil, B. G., & Reisch, N. (2021) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2021.105921 · Cited by 24
Growth Analysis in Patients with 21-Hydroxylase Deficiency Influence of Glucocorticoid Dosage, Age at Diagnosis, Phenotype and Genotype on Growth and Height Outcome
Grigorescu-Sido, A., Bettendorf, M., Schulze, E., Duncea, I., & Heinrich, U. (2003) · Hormone Research in Paediatrics · doi:10.1159/000071876 · Cited by 42
Genetics and Pathophysiology of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Yang, M., & White, P. C. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae535 · Cited by 20
Genetic aetiology of primary adrenal insufficiency in Chinese children
Chang, Z., Lu, W., Zhao, Z., Li, X., Li, X., Ye, R., Ni, J., Zhou, P., Zhang, M., Cheng, R., et al. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-01021-x · Cited by 20
The Adrenal Cortex
Stewart, P. M., & Newell-Price, J. D. C. (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-29738-7.00015-0 · Cited by 24
Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life
Bonfig, W., & Schwarz, H. (2010) · Hormone Research in Paediatrics · doi:10.1159/000322580 · Cited by 20
Self-citation
Diagnosis and management of classical congenital adrenal hyperplasia
Marumudi, E., Khadgawat, R., Surana, V., Shabir, I., Joseph, A. A., & Ammini, A. C. (2013) · Steroids · doi:10.1016/j.steroids.2013.04.007 · Cited by 20
Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency
Luczay, A., Török, D., Ferenczi, A., Majnik, J., Sólyom, J., & Fekete, G. (2006) · European Journal of Endocrinology · doi:10.1530/eje.1.02162 · Cited by 21
Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines
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
Congenital Adrenal Hyperplasia
Vos, A. A., & Bruinse, H. W. (2010) · Obstetrical & Gynecological Survey · doi:10.1097/ogx.0b013e3181d61046 · Cited by 18
A Male Case of Nonclassical 21-hydroxylase Deficiency First Manifested in His Sixties with Adrenocortical Incidentaloma
Nigawara, T., Kageyama, K., Sakihara, S., Takayasu, S., KAWAHARA, M., Imai, A., Οhyama, C., Usui, T., Sasano, H., & Suda, T. (2008) · Endocrine Journal · doi:10.1507/endocrj.k07-119 · Cited by 16
21-hydroxylase deficiency: From molecular genetics to clinical presentation
Trakakis, E., Laggas, D., Salamalekis, E., & Creatsas, G. C. (2005) · Journal of Endocrinological Investigation · doi:10.1007/bf03345366 · Cited by 19
Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene
Koppens, P. F. J., Smeets, H. J. M., de Wijs, I. J., & Degenhart, H. J. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.5.e53 · Cited by 19
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
Overview of Genetic Defects in Endocrinopathies in the Island of Cyprus; Evidence of a Founder Effect
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
Variations in the promoter of CYP21A2 gene identified in a Chinese patient with simple virilizing form of 21‐hydroxylase deficiency
Zhang, H., Yang, J., Zhang, M., Zhang, W., Liu, J., Wang, W., Ning, G., & Li, X. (2008) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2008.03356.x · Cited by 18
Relationships, Sexuality, Gender Identity, Gender Roles, and Self-Concept of Individuals Who Have Congenital Adrenal Hyperplasia: A Qualitative Investigation
Guth, L. J., Witchel, R. I., Witchel, S. F., & Lee, P. A. (2006) · Journal of Gay & Lesbian Psychotherapy · doi:10.1300/j236v10n02_04 · Cited by 18
Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype
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
Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia
Prado, M. J., de Castro, S. M., Kopacek, C., de Mello, M. P., Rispoli, T., Grandi, T., da Silva, C. M. D., & Rossetti, M. L. R. (2017) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-017-0296-6 · Cited by 17
An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency
Hannah‐Shmouni, F., & Stratakis, C. A. (2018) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-018-9447-2 · Cited by 17
Sexual Well-Being in Adult Male Patients with Congenital Adrenal Hyperplasia
Dudzińska, B., Leubner, J., Ventz, M., & Quinkler, M. O. (2014) · International Journal of Endocrinology · doi:10.1155/2014/469289 · Cited by 17
CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype–Phenotype Correlation from a Portuguese Pediatric Cohort
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
A Rare Duplicated 21-Hydroxylase Haplotype and ade NovoMutation: A Family Analysis
Baumgartner-Parzer, S. M., Nowotny, P., Waldhäusl, W., & Vierhapper, H. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021589 · Cited by 17
Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome
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
Molecular testing in congenital adrenal hyperplasia due to 21α‐hydroxylase deficiency in the era of newborn screening
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
Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia
Neocleous, V., Fanis, P., Phylactou, L. A., & Skordis, N. (2018) · Frontiers in Endocrinology · doi:10.3389/fendo.2018.00733 · Cited by 16
The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions
Krone, N. P., Riepe, F. G., Grötzinger, J., Partsch, C., Brämswig, J., & Sippell, W. G. (2005) · Journal of Molecular Medicine · doi:10.1007/s00109-005-0655-3 · Cited by 16
Self-citation
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system: Functional Characterization of CYP21A2 Variants
Bleicken, C., Loidi, L., Dhir, V., Parajes, S., Quinteiro, C., Dominguez, F., Grötzinger, J., Sippell, W. G., Riepe, F. G., Arlt, W., et al. (2009) · Human Mutation · doi:10.1002/humu.20926 · Cited by 15
Self-citation
The Frequency and the Effects of 21-Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients
Kıraç, D., Güney, A. İ., Akçay, T., Güran, T., Ulucan, K., Turan, S., Ergeç, D., Koç, G., Eren, F., Kaspar, E. Ç., et al. (2014) · Annals of Human Genetics · doi:10.1111/ahg.12083 · Cited by 15
Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency
Fajkusová (2010) · International Journal of Molecular Medicine · doi:10.3892/ijmm_00000504 · Cited by 15
The molecular basis and genotype–phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population
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
Functional and Structural Consequences of a Novel Point Mutation in theCYP21A2Gene Causing Congenital Adrenal Hyperplasia: Potential Relevance of Helix C for P450 Oxidoreductase-21-Hydroxylase Interaction
Riepe, F. G., Hiort, O., Grötzinger, J., Sippell, W. G., Krone, N. P., & Holterhus, P. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-2646 · Cited by 16
Self-citation
Congenital Adrenal Hyperplasia: From Genetics and Biochemistry to Clinical Practice, Part 1
Collett‐Solberg, P. F. (2001) · Clinical Pediatrics · doi:10.1177/000992280104000101 · Cited by 14
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Dörr, H.-G., Schulze, N., Bettendorf, M., Binder, G., Bonfig, W., Denzer, C., Dunstheimer, D., Salzgeber, K., Schmidt, H., Schwab, K. O., et al. (2020) · Molecular and Cellular Pediatrics · doi:10.1186/s40348-020-00100-w · Cited by 14
Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation
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
The Adrenal Cortex and Its Disorders
Miller, W. L., Flück, C. E., Breault, D. T., & Feldman, B. J. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-62520-3.00014-2 · Cited by 14
Genotype, phenotype and hormonal levels correlation in non-classical congenital adrenal hyperplasia.
Einaudi, S., Napolitano, E., Restivo, F., Motta, G., Baldi, M., Tuli, G., Grosso, E., Migone, N., Menegatti, E., & Manieri, C. (2011) · PubMed · doi:10.3275/7410 · Cited by 14
Three novel CYP21A2 mutations and their protein modelling in patients with classical 21‐hydroxylase deficiency from northeastern Iran
Baradaran‐Heravi, A., Vakili, R., Robins, T., Carlsson, J., Ghaemi, N., Arabi, A., & Abbaszadegan, M. R. (2007) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.02886.x · Cited by 14
Pseudohypoaldosteronism without nephropathy masking salt-wasting congenital adrenal hyperplasia genetically confirmed
Esponera, C. B., Bigatá, T. G., Pérez, J., & Corripio, R. (2013) · BMJ Case Reports · doi:10.1136/bcr-2012-008281 · Cited by 14
Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia
Neocleous, V., Ioannou, Y. S., Bartsota, M., Costi, C., Skordis, N., & Phylactou, L. A. (2009) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2009.05.015 · Cited by 14
Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia
Brønstad, I., Breivik, L., Methlie, P., Wolff, A. S. B., Bratland, E., Nermoen, I., Løvås, K., & Husebye, E. S. (2014) · Endocrine Connections · doi:10.1530/ec-14-0032 · Cited by 15
Variations in the 3′UTR of theCYP21A2Gene in Heterozygous Females with Hyperandrogenaemia
Neocleous, V., Fanis, P., Toumba, M., Phedonos, A., Picolos, M. K., Andreou, E., Kyriakides, T. C., Tanteles, G. A., Shammas, C., Phylactou, L. A., et al. (2017) · International Journal of Endocrinology · doi:10.1155/2017/8984365 · Cited by 14
Acute encephalopathy with unilateral cortical-subcortical lesions in two unrelated kindreds treated with glucocorticoids prenatally for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: established facts and novel insight
Grunt, S., Steinlin, M., Weisstanner, C., Schöning, M., Mullis, P. E., & Flück, C. E. (2013) · Hormone Research in Paediatrics · doi:10.1159/000348515 · Cited by 13
Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Xia, Y., Shi, P., Gao, S., Liu, N., Zhang, H., & Kong, X. (2022) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2022.106156 · Cited by 14
Human Gonads Do Not Contribute to the Circulating Pool of 11-Oxygenated Androgens
Charoensri, S., Rege, J., Lee, C., Marko, X., Sherk, W. M., Sholinyan, J., Rainey, W. E., & Turcu, A. F. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae420 · Cited by 13
High serum progesterone associated with infertility in a woman with nonclassic congenital adrenal hyperplasia
Kawarai, Y., Ishikawa, H., Segawa, T., Teramoto, S., Tanaka, T., & Shozu, M. (2017) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.13288 · Cited by 13
21-Hydroxylase Genotyping in Australasian Patients with Congenital Adrenal Hyperplasia
Jeske, Y. W. A., McGown, I. N., Harris, M. A., Bowling, F. G., Choong, C. S., Cowley, D. M., & Cotterill, A. M. (2009) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2009.22.2.127 · Cited by 13
Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome
Lee, C., Chan, A. O.-K., Fok, J. M., Mak, M. W., Yu, K., Lee, K., & Shek, C. (2013) · Hong Kong Medical Journal · doi:10.12809/hkmj133717 · Cited by 13
Disorders of Growth and Development
Richmond, E. J., & Rogol, A. D. (2002) · Humana Press eBooks · doi:10.1007/978-1-59259-277-7_21 · Cited by 13
Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications
Concolino, P., & Falhammar, H. (2025) · Journal of the Endocrine Society · doi:10.1210/jendso/bvaf018 · Cited by 12
Epidemiology and Causes of Primary Adrenal Insufficiency in Children: A Population-Based Study
Borchers, J., Pukkala, ., Mäkitie, O., & Laakso, S. M. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad283 · Cited by 14
Clinical Characteristics of Taiwanese Children With Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency in the Pre-screening Era
Lee, C.-T., Tung, Y., Hsiao, P.-H., Lee, J.-S., & Tsai, W. (2010) · Journal of the Formosan Medical Association · doi:10.1016/s0929-6646(10)60035-6 · Cited by 13

Authors: Krone, N., Braun, A., Roscher, A. A., Knorr, D., & Schwarz, H. P.
Affiliations: Ludwig-Maximilians-Universität München (DE)
Corresponding author: Schwarz, Hans Peter
ORCID: Krone, Nils
Braun, Andreas
Knorr, Dietrich
Venue: The Journal of Clinical Endocrinology & Metabolism
Publisher: The Endocrine Society
Published: 2000-03-01
Volume: 85
Issue: 3
Pages: 1059-1065
ISSN: 0021-972X (ISSN-L)
1945-7197
DOI: 10.1210/jcem.85.3.6441
OpenAlex: W2066497061
Semantic Scholar: a988cc456aad7cb2ff501db38740a080992699c6
Cited by: 397
References: 49
Citations by year: 2026: 9 · 2025: 13 · 2024: 10 · 2023: 15 · 2022: 9 · 2021: 27 · 2020: 17 · 2019: 21 · 2018: 10 · 2017: 11 · 2016: 25 · 2015: 12 · 2014: 19 · 2013: 21 · 2012: 16
FWCI: 3.62
Type: journal article
Language: en
Open access: closed
Locations: The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
PubMed (publishedVersion)
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, CYP21, genotype-phenotype correlation, CYP21 mutations, salt-wasting phenotype, compound heterozygosity, gene conversion, positive predictive value
MeSH terms: Adrenal Hyperplasia, Congenital, Alleles, DNA Mutational Analysis, Gene Frequency, Genotype, Germany, Humans, Mutation, Phenotype, Predictive Value of Tests, Steroid 21-Hydroxylase, Cohort 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

Predicting Phenotype in Steroid 21-Hydroxylase Deficiency? Comprehensive Genotyping in 155 Unrelated, Well Defined Patients from Southern Germany

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks