Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17α-hydroxylase/17,20-lyase deficiency

Qiao, Jie; Chen, Xia; Zuo, Chun‐Lin; Gu, Yan‐Yun; Liu, Bing‐Li; Liang, Jun; Lu, Ying‐Li; Tang, Jin‐Feng; Wu, Yi‐Xin; Chen, Ming‐Dao; Chen, Jia‐Lun; Wu, Wan‐Ling; Song, Huai‐Dong

doi:10.1111/j.1365-2265.2009.03607.x

Cited by 30Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17α-hydroxylase/17,20-lyase deficiency

Open access

Qiao, Jie, Chen, Xia, Zuo, Chun‐Lin, Gu, Yan‐Yun, Liu, Bing‐Li, Liang, Jun, Lu, Ying‐Li, Tang, Jin‐Feng +5 more·2010·Clinical Endocrinology

DOI 10.1111/j.1365-2265.2009.03607.x

Open this paper in CoChat — free account Open PDF

Abstract

Summary: Objective P450c17 deficiency (17α‐hydroxylase/17,20‐lyase deficiency, 17OHD) is a rare form of congenital adrenal hyperplasia caused by CYP17A1 gene mutations. The D487_F489 deletion in exon 8 and Y329fs in exon 6 are relatively frequent mutations of the CYP17A1 gene in China that completely abolish the enzyme activity of P450c17. However, little remains known about steroid biosynthetic functions in carriers with these mutations in a single allele of the CYP17A1 gene, who are assumed to have 50% P450c17 activity. We investigated adrenal steroidogenic function in genotype‐proven heterozygotes carrying such mutations in the CYP17A1 gene in vivo. Patients and design Eight patients and fourteen family members from five families with 17OHD were recruited. The mutations of the CYP17A1 gene in these individuals were screened by sequencing. The hormonal response to cosyntropin (ACTH) was evaluated in the 14 genotype‐proven carriers and 45 age‐ and gender‐matched normal controls. Results Fourteen carriers of the CYP17A1 mutation – seven with the D487_F489 deletion, six with Y329fs and one with H373L – were identified from the five families with 17OHD. Compared with normal controls, carriers showed lower basal and ACTH‐stimulated cortisol levels but higher ACTH‐stimulated corticosterone levels. The ratios of corticosterone to cortisol in the genotype‐proven heterozygotes were higher than those of the normal controls at the baseline and after cosyntropin stimulation. Similarly, the progesterone levels and the ratios of progesterone to 17‐hydroxyprogesterone in the male heterozygotes were also higher than those of the normal controls, both before and after ACTH stimulation. Conclusion Genotype‐proven carriers of the CYP17A1 mutation who lack apparent clinical symptoms exhibit decreased adrenal 17α‐hydroxylase activity and altered adrenal gland reserve for steroid biosynthesis.

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

Crossref · 10.1111/j.1365-2265.2009.03607.x

Cites

26 of 26 references verified0 citation errors · 0 not checkable

Statistics

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?

Heterozygotes for 17α-hydroxylase deficiency can sometimes be identified by cosyntropin stimulation testing.
“Heterozygotes can sometimes be identified by cosyntropin stimulation testing (234,265,266).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [234]

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

17-Hydroxylation deficiency in man
Biglieri, E. G., Herron, M. A., & Brust, N. (1966) · Journal of Clinical Investigation · doi:10.1172/jci105499 · Cited by 561 · see citing works
Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues.
Chung, B. C., Picado-Leonard, J., Haniu, M., Bienkowski, M., Hall, P. F., Shively, J. E., & Miller, W. L. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.2.407 · Cited by 444 · see citing works
Cloning and Sequence of the Human Gene for P450cl7 (Steroid 17α-Hydroxylase/17,20 Lyase): Similarity with the Gene for P450c21
PICADO-LEONARD, J., & MILLER, W. L. (1987) · DNA · doi:10.1089/dna.1987.6.439 · Cited by 415 · see citing works
17α-Hydroxylase/17,20 lyase deficiency: from clinical investigation to molecular definition
YANASE, T., SIMPSON, E. R., & WATERMAN, M. R. (1991) · Endocrine Reviews · doi:10.1210/edrv-12-1-91 · Cited by 390 · see citing works
THE GENETICS, PATHOPHYSIOLOGX, AND MANAGEMENT OF HUMAN DEFICIENCIES OF P450c17
Auchus, R. J. (2001) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(08)70021-5 · Cited by 266 · see citing works
Two Prevalent <i>CYP17</i> Mutations and Genotype-Phenotype Correlations in 24 Brazilian Patients with 17-Hydroxylase Deficiency
Costa-Santos, M., Kater, C. E., & Auchus, R. J. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-031021 · Cited by 224 · see citing works
Developmental Expression of Genes for the Stereoidogenic Enzymes P450scc (20,22-Desmolase), P450cl7 (17αHydroxylase/17,20-Lyase), and P450c21 (21-Hydroxylase) in the Human Fetus*
VOUTILAINEN, R., & MILLER, W. L. (1986) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-63-5-1145 · Cited by 185 · see citing works
Molecular Modeling of Human P450c17 (17α-Hydroxylase/ 17,20-Lyase): Insights into Reaction Mechanisms and Effects of Mutations
Auchus, R. J., & Miller, W. L. (1999) · Molecular Endocrinology · doi:10.1210/mend.13.7.0326 · Cited by 185 · see citing works
ASSIGNMENT OF THE GENE FOR ADRENAL P450cl7 (STEROID 17α-HYDR0XYLASE⁄17,20 LYASE) TO HUMAN CHROMOSOME 10.
MATTESON, K. J., PICADO-LEONARD, J., CHUNG, B.-C., MOHANDAS, T. K., & MILLER, W. L. (1986) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-63-3-789 · Cited by 160 · see citing works
Localization of the human CYP17 gene (cytochrome P45017α) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding
Fan, Y.-S., Sasi, R., Lee, C., Winter, J. S. D., Waterman, M. R., & Lin, C. C. (1992) · Genomics · doi:10.1016/s0888-7543(05)80140-5 · Cited by 102 · see citing works
Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17.
Miura, K., Yasuda, K., Yanase, T., Yamakita, N., Sasano, H., Nawata, H., Inoue, M., Fukaya, T., & Shizuta, Y. (1996) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.81.10.8855840 · Cited by 84 · see citing works
Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency.
Monno, S., Ogawa, H., Date, T., Fujioka, M., Miller, W. L., & Kobayashi, M. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)74462-7 · Cited by 74 · see citing works
Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.
Fardella, C. E., Zhang, L. H., Mahachoklertwattana, P., Lin, D., & Miller, W. L. (1993) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.77.2.8345056 · Cited by 72 · see citing works
Phenotype-Genotype Correlation in Eight Chinese 17α-Hydroxylase/17,20 Lyase-Deficiency Patients with Five Novel Mutations of CYP17A1 Gene
Yang, J., Cui, B., Sun, S., Shi, T., Zheng, S., Bi, Y., Liu, J., Zhao, Y., Chen, J., Ning, G., et al. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-2283 · Cited by 63 · see citing works
Self-citation
Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency
Fardella, C., Hum, D. W., Homoki, J., & Miller, W. L. (1994) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.79.1.8027220 · Cited by 62 · see citing works
17α-Hydroxylase deficiency: mineralocorticoid hormone profiles in an affected family
D'Armiento, M., Reda, G., Kater, C., Shackleton, C. H. L., & Biglieri, E. G. (1983) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-56-4-697 · Cited by 47 · see citing works
Genotyping of Five Chinese Patients with 17α-Hydroxylase Deficiency Diagnosed through High-Performance Liquid Chromatography Serum Adrenal Profile: Identification of Two Novel CYP17 Mutations
Wei, J., Wei, J., Li, W., Yun-sheng, B., & Wei, F. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0153 · Cited by 45 · see citing works
Diagnosis and Natural History of 17-Hydroxylase Deficiency in a Newborn Male*
Dean, H., Shackleton, C. H. L., & Winter, J. S. D. (1984) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-59-3-513 · Cited by 43 · see citing works
Novel mutation of the CYP17 gene in two unrelated patients with combined 17α-hydroxylase/17,20-lyase deficiency: Demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling
Patócs, A., Likó, I., Varga, I., Gergics, P., Boros, A. M., Fütő, L., Kun, I. Z., Bertalan, R. Á., Tóth, S., Pázmány, T., et al. (2005) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2005.06.035 · Cited by 36 · see citing works
A complex heterozygous mutation of His373Leu and Asp487–Ser488–Phe489 deletion in human cytochrome P450c17 causes 17α-hydroxylase/17,20-lyase deficiency in three Chinese sisters
Qiao, J. (2003) · Molecular and Cellular Endocrinology · doi:10.1016/s0303-7207(02)00156-9 · Cited by 36 · see citing works
Self-citation
A novel compound heterozygous mutation in the CYP17 (P450 17α-hydroxylase) gene leading to 17α-hydroxylase/17,20-lyase deficiency
Hahm, J. R., Kim, D. R., Jeong, D. K., Chung, J. H., Lee, M., Min, Y., Kim, K., & Lee, M. (2003) · Metabolism · doi:10.1053/meta.2003.50080 · Cited by 24 · see citing works
Heterozygotes for 17α-hydroxylase deficiency can be detected with a short ACTH test
WIT, J. M., VAN ROERMUND, H. P. C., OOSTDIJK, W., BENRAAD, T. H. J., THIJSSEN, J. H. H., BOER, P., JANSEN, M., SPIT, M., & VAN DEN BRANDE, J. L. (1988) · Clinical Endocrinology · doi:10.1111/j.1365-2265.1988.tb03858.x · Cited by 18 · see citing works
A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17α-hydroxylase deficiency
Lee, L.-S., Shu, W.-J., Wu, C.-M., Hsieh, C.-H., Chen, S.-M., Hu, C., Chen, W., & Chung, B. (2006) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2006.01.003 · Cited by 15 · see citing works
Functional characterization of mutant CYP17 genes isolated from a 17α-hydroxylase/17,20-lyase-deficient patient
Hahm, J. R., Jung, T. S., Byun, S. Y., Lee, Y. N., Lee, K. H., & Kim, D. R. (2004) · Metabolism · doi:10.1016/j.metabol.2004.05.018 · Cited by 11 · see citing works
Serum Steroid Hormonal Profiles by Reversed-Phase Liquid Chromatography in Patients with 17-Hydroxylase Deficiency and in an Affected Family
Wei, J.-Q., Wei, J., Lucarelli, C., Zhou, X.-T., Wang, D.-Q., Dai, W.-J., Li, S., Li, S.-M., & Liu, R.-T. (1992) · Clinical Chemistry · doi:10.1093/clinchem/38.1.76 · Cited by 10 · see citing works
Fat metabolism in nephrotic hyperlipemia.
Heymann, W., Lw, M., Lemm, J., Olynyk, P., Salehar, M., & Gilkey, C. (1954) · PubMed · Cited by 9 · see citing works

Flagged first, then by citations

1 of the 27 references couldn’t be matched to a known paper.

Research works printed but not linked: 1

[17]17. Yang, J., Cui, B., Sun, S. et al. (2006) Phenotype-genotype correla- tion in eight Chinese 17alpha-hydroxylase/17,20lyase-deficiency patients with five novel mutations of CYP17A1A1 gene. Journal of Clinical Endocrinology and Metabolism, 91, 3619-3625.

Sorted by citations

The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Miller, W. L., & Auchus, R. J. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0013 · Cited by 2,458 · see citing works
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation
Kim, Y., Kang, M., Choi, J., Lee, B. H., Kim, G.-H., Ohn, J. H., Kim, S. Y., Park, M. S., & Yoo, H. (2013) · Metabolism · doi:10.1016/j.metabol.2013.08.015 · Cited by 78 · see citing works
The hunt for a selective 17,20 lyase inhibitor; learning lessons from nature
Bird, I. M., & Abbott, D. H. (2016) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2016.04.021 · Cited by 43 · see citing works
Diagnosis of Diseases of Steroid Hormone Production, Metabolism and Action
Honour, J. W. (2009) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.v1i5.209 · Cited by 30 · see citing works
Phenotypic Heterogeneity and Fertility Potential of Patients With 17-Hydroxylase/17,20-lyase Deficiency
Xu, Y., Jiang, S., Yan, Z., Niu, Y., Du, W., Liu, B., Han, B., Liu, X., Zhao, S., Song, H., et al. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgac029 · Cited by 26 · see citing works
Self-citation
A unique exonic splicing mutation in the CYP17A1 gene as the cause for steroid 17α-hydroxylase deficiency
Qiao, J., Han, B., Liu, B., Liu, W., Wu, J., Pan, C., Jiang, H., Gu, T., Jiang, B., Zhu, H., et al. (2011) · European Journal of Endocrinology · doi:10.1530/eje-10-0933 · Cited by 26 · see citing works
Self-citation
Rare forms of congenital adrenal hyperplasia
Tosun, B. G., & Güran, T. (2023) · Clinical Endocrinology · doi:10.1111/cen.15009 · Cited by 22 · see citing works
17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort
Şıklar, Z., Çamtosun, E., Bolu, S., Yıldız, M., Akıncı, A., Baş, F., Dündar, İ., Beştaş, A., Ünal, E., Kocaay, P., et al. (2024) · Endocrine · doi:10.1007/s12020-024-03962-6 · Cited by 21 · see citing works
17α-hydroxlyase/17, 20-lyase Deficiency in Three Siblings with Primary Amenorrhea and Absence of Secondary Sexual Development
Oh, Y., Ryoo, U., Kim, D., Cho, S. Y., Jin, D., Yoon, B.-K., Lee, D. Y., & Choi, D. S. (2012) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2012.05.008 · Cited by 20 · see citing works
Six new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/ 17,20-lyase deficiency in Brazil
Belgini, D. R. B., de Mello, M. P., Baptista, M. T. M., de Oliveira, D. M., Denardi, F. C., Garmes, H. M., Grassiotto, O. D. R., Benetti‐Pinto, C. L., Marques‐de‐Faria, A. P., Maciel‐Guerra, A. T., et al. (2010) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302010000800008 · Cited by 15 · see citing works
Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency
Xia, Y., Shi, P., Xia, J., Zhang, H., Xu, L., & Kong, X. (2021) · Steroids · doi:10.1016/j.steroids.2021.108873 · Cited by 12 · see citing works
Genetic Analysis of 25 Patients with 5α‐Reductase Deficiency in Chinese Population
Han, B., Cheng, T., Zhu, H., Yu, J., Zhu, W., Song, H., Yao, H., & Qiao, J. (2020) · BioMed Research International · doi:10.1155/2020/1789514 · Cited by 10 · see citing works
Self-citation
HomozygousCYP17A1mutation (H373L) identified in a 46,XX female with combined 17α-hydroxylase/17,20-lyase deficiency
Lee, M. H., Park, S. W., Yoon, T. K., & Shim, S. H. (2012) · Gynecological Endocrinology · doi:10.3109/09513590.2011.650743 · Cited by 10 · see citing works
A new compound heterozygous mutation in a female with 17α-hydroxylase/17,20-lyase deficiency, slipped capital femoral epiphysis, and adrenal myelolipoma
Yang, F., Zhao, Y., Lv, J., Sheng, X., & Wang, L. (2019) · Gynecological Endocrinology · doi:10.1080/09513590.2018.1540576 · Cited by 10 · see citing works
Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
Asirvatham, A. R., Balachandran, K., Jerome, P., Venkatesan, V., Koshy, T., & Mahadevan, S. (2020) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2020-0050 · Cited by 9 · see citing works
Reproductive endocrine characteristics and in vitro fertilization treatment of female patients with partial 17α-hydroxylase deficiency: Two pedigree investigations and a literature review
Jiang, S., Xu, Y., Qiao, J., Wang, Y., & Kuang, Y. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.970190 · Cited by 7 · see citing works
Self-citation
A novel CYP 17 A 1 deletion causes a functional knockout of the steroid enzyme 17‐hydroxylase and 17,20‐lyase in a T urkish family and illustrates the precise role of the CYP 17 A 1 gene
Camats, N., Üstyol, A., Atabek, M. E., Dick, B., & Flück, C. E. (2015) · Clinical Case Reports · doi:10.1002/ccr3.343 · Cited by 7 · see citing works
A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review
Chen, H., Chen, Y., Mao, H., Huang, H., & Lou, X. (2023) · Blood Pressure · doi:10.1080/08037051.2023.2195008 · Cited by 6 · see citing works
Steroid metabolism gene variants and their genotype-phenotype correlations in Chinese early-onset hypertension patients
Qin, F., Liu, K., Zhang, C., Sun, X., Zhang, Y., Wu, Y., Ma, W., Wang, W., Wu, X., Qin, Y., et al. (2019) · Hypertension Research · doi:10.1038/s41440-019-0306-7 · Cited by 5 · see citing works
Self-citation
Successful live birth in women with partial 17α-hydroxylase deficiency: report of two cases
Du, X., Jia, Q., Wu, S., Wang, B., & Guan, Y. (2024) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2024.103855 · Cited by 5 · see citing works
Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency
İsakoca, M., Erdeve, Ş. S., & Çetinkaya, S. Ç. (2024) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2024.2024-6-21-s · Cited by 5 · see citing works
Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1–6 Deletion (Founder Mutation) in the CYP17A1Gene: 20-Year Single-Center Experience
Dündar, İ., Akıncı, A., Çamtosun, E., Çiftçi, N., & Kayaş, L. (2023) · Sexual Development · doi:10.1159/000529158 · Cited by 5 · see citing works
Congenital adrenal hyperplasia and hypertension
Tosun, B. G., & Güran, T. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-96120-2.00015-7 · Cited by 5 · see citing works
Combined 17α-hydroxylase/17,20-lyase deficiency with short stature: case study
Ma, L., Peng, F., Yu, L., Chen, J., Ji, W., Zhang, C., & Zhang, X. (2015) · Gynecological Endocrinology · doi:10.3109/09513590.2015.1116506 · Cited by 4 · see citing works
Self-citation
Identification of a novel mutation in CYP17A1 gene
Xue, L., Han, B., Chen, L., Pan, C., Zhu, H., Liu, B., Liu, W., Wu, W., Chen, M., Lu, Y., et al. (2012) · Translational research · doi:10.1016/j.trsl.2012.08.007 · Cited by 4 · see citing works
Self-citation
Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management
Cavarzere, P., lupieri, V., battiston, R., Mancioppi, V., & Maffeis, C. (2025) · Journal of Endocrinological Investigation · doi:10.1007/s40618-025-02750-x · Cited by 3 · see citing works
Successful Treatment of Infertility in a Patient with Probable 17 Hydroxylase Deficiency and Particularities of Association with Adrenal Autoimmunity—A Case Report and Review of the Literature
Albu, A. I., Iancu, M. E., & Albu, D. N. (2023) · Life · doi:10.3390/life13040921 · Cited by 3 · see citing works
Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis
Zhang, Y., Zhang, X., Wang, Y., Hua, K., & Ding, J. (2018) · Gynecological Endocrinology · doi:10.1080/09513590.2017.1417981 · Cited by 3 · see citing works
Population-based screening of CYP17A1 Y329fs mutation carriers in the Han Chinese population
Han, B., Zhang, X., Liu, C., Zhu, H., Zhu, W., Xu, Y., Zhang, F., Zhang, K., Xu, S., & Qiao, J. (2025) · Genes & Diseases · doi:10.1016/j.gendis.2025.101647 · Cited by 2 · see citing works
Self-citation
An unique exonic splicing mutation in the CYPI7AI gene as the cause of steroid 17α-hydroxylase deficiency
Bing, H., Qiao, J., Liu, B., Liu, W., Wu, J., Pan, C.-M., He, J., Gu, T., Jiang, B., Zhu, H., et al. (2011) · Zhonghua neifenmi daixie zazhi · doi:10.3760/cma.j.issn.1000-6699.2011.11.010 · Cited by 1 · see citing works
Self-citation

Steroid 17α-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in theCYP17A1Gene
Dhir, V., Reisch, N., Bleicken, C., Lebl, J., Kamrath, C., Schwarz, H., Grötzinger, J., Sippell, W. G., Riepe, F. G., Arlt, W., et al. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0172 · Cited by 46 · see citing works
The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series
Sun, M., Mueller, J. W., Gilligan, L. C., TAYLOR, A. E. R., Shaheen, F., Noczyńska, A., T'Sjoen, G. G., Denvir, L. A., Shenoy, S., Fulton, P., et al. (2021) · European Journal of Endocrinology · doi:10.1530/eje-21-0152 · Cited by 29 · see citing works
Clinical, Molecular, Functional, and Structural Characterization of CYP17A1 Mutations in Brazilian Patients with 17-Hydroxylase Deficiency
Coeli‐Lacchini, F. B., Mermejo, L. M., Bodoni, A. F., Elias, L. L. K., Silva, W. A., Antonini, S. R. R., Moreira, A. C., & de Castro, M. (2020) · Hormone and Metabolic Research · doi:10.1055/a-1100-7066 · Cited by 11 · see citing works
17α-Hydroxylase/17,20-Lyase Deficiency Caused by a Novel Homozygous Mutation (Y27Stop) in the Cytochrome CYP17 Gene
Müssig, K., Kaltenbach, S., Machicao, F. E., Maser‐Gluth, C., Hartmann, M. F., Wudy, S. A., Schnauder, G., Häring, H., Seif, F. J., & Gallwitz, B. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-0136 · Cited by 30 · see citing works
Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.
Fardella, C. E., Zhang, L. H., Mahachoklertwattana, P., Lin, D., & Miller, W. L. (1993) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.77.2.8345056 · Cited by 72 · see citing works

Authors: Qiao, J., Chen, X., Zuo, C., Gu, Y., Liu, B., Liang, J., Lu, Y., Tang, J., Wu, Y., Chen, M., Chen, J., Wu, W., & Song, H.
Affiliations: Shanghai Jiao Tong University (CN)
Xuzhou Central Hospital (CN)
Corresponding author: Song, Huai‐Dong
ORCID: Qiao, Jie
Chen, Xia
Liang, Jun
Chen, Ming‐Dao
Song, Huai‐Dong
Venue: Clinical Endocrinology
Publisher: Wiley
Published: 2010-02-10
Volume: 72
Issue: 3
Pages: 312-319
ISSN: 0300-0664 (ISSN-L)
1365-2265
DOI: 10.1111/j.1365-2265.2009.03607.x
OpenAlex: W2121731982
Semantic Scholar: ba850f04995591b4ad197ad966890cb9b321b418
Cited by: 30
References: 27
Citations by year: 2025: 2 · 2024: 3 · 2023: 5 · 2022: 2 · 2021: 1 · 2020: 2 · 2019: 2 · 2018: 1 · 2016: 1 · 2015: 2 · 2013: 1 · 2012: 3
FWCI: 1.07
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: Clinical Endocrinology (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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: 17α-hydroxylase/17,20-lyase deficiency, congenital adrenal hyperplasia, heterozygous carriers, P450c17, adrenal steroidogenesis, ACTH stimulation test, cortisol, corticosterone, progesterone, 17-hydroxyprogesterone
MeSH terms: Adolescent, Adrenal Hyperplasia, Congenital, Adult, Cosyntropin, DNA Mutational Analysis, Female, Genotype, Hormones, Humans, Male, Middle Aged, Pedigree, Steroid 17-alpha-Hydroxylase, 11-Hydroxycorticosteroids, Case-Control Studies, Young Adult

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

Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17α-hydroxylase/17,20-lyase deficiency

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Self-check

Cites

Cited by

Related

Record

About these checks