Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center
PurposeThe purpose of the study was to evaluate endocrine patterns of patients with congenital adrenal hyperplasia and each gene mutation and to analyze the correlation between each phenotype and genotype.MethodsThis was a retrospective study of the patients with congenital adrenal hyperplasia in th...
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| Format: | Article |
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Korean Society of Pediatric Endocrinology
2013-09-01
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| Series: | Annals of Pediatric Endocrinology & Metabolism |
| Subjects: | |
| Online Access: | http://e-apem.org/upload/pdf/apem-18-128.pdf |
| _version_ | 1819136439379558400 |
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| author | Yangho Yoo Mi Sun Chang Jieun Lee Sung Yoon Cho Sung Won Park Dong-Kyu Jin Hyung-Doo Park |
| author_facet | Yangho Yoo Mi Sun Chang Jieun Lee Sung Yoon Cho Sung Won Park Dong-Kyu Jin Hyung-Doo Park |
| author_sort | Yangho Yoo |
| collection | DOAJ |
| description | PurposeThe purpose of the study was to evaluate endocrine patterns of patients with congenital adrenal hyperplasia and each gene mutation and to analyze the correlation between each phenotype and genotype.MethodsThis was a retrospective study of the patients with congenital adrenal hyperplasia in the pediatric outpatient clinic at the Samsung Medical Center from November 1994 to December 2012. We analyzed the medical records of 27 patients (male, 19; female, 8) with congenital adrenal hyperplasia who had been diagnosed by genetic testing to have 21-hydroxylase deficiency.ResultsIn genetic analysis of 54 alleles from 27 patients, 13 types of mutations were identified. The distribution of 21-hydroxylase deficiency gene mutations revealed that intron 2 splice site (c.293-13A/C>G) mutations and large deletions were the most common, at 31.5% and 22.2% respectively, followed by p.I173N, p.R356W, and p.I172N mutations at 11.1%, 9.3%, and 9.3%, respectively. Other mutations were observed at 1.9-3.7%. No novel mutations were detected.ConclusionThe analysis of 54 alleles revealed 13 types of mutation. The salt wasting form showed a good correlation between genotype and phenotype, but the simple virilizing and nonclassic forms showed inconsistencies between genotype and phenotype. The distribution of CYP21A2 mutations was evaluated for 21-hydroxylase deficiency patients from a single center. This study provides limited data on mutation spectrum and genotype-phenotype correlation of 21-hydroxylase deficiency in Korea. |
| first_indexed | 2024-12-22T10:35:00Z |
| format | Article |
| id | doaj.art-4a725b19422e4994b69c783138cf8615 |
| institution | Directory Open Access Journal |
| issn | 2287-1012 2287-1292 |
| language | English |
| last_indexed | 2024-12-22T10:35:00Z |
| publishDate | 2013-09-01 |
| publisher | Korean Society of Pediatric Endocrinology |
| record_format | Article |
| series | Annals of Pediatric Endocrinology & Metabolism |
| spelling | doaj.art-4a725b19422e4994b69c783138cf86152022-12-21T18:29:12ZengKorean Society of Pediatric EndocrinologyAnnals of Pediatric Endocrinology & Metabolism2287-10122287-12922013-09-0118312813410.6065/apem.2013.18.3.128498Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single centerYangho Yoo0Mi Sun Chang1Jieun Lee2Sung Yoon ChoSung Won ParkDong-Kyu Jin3Hyung-Doo ParkDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.PurposeThe purpose of the study was to evaluate endocrine patterns of patients with congenital adrenal hyperplasia and each gene mutation and to analyze the correlation between each phenotype and genotype.MethodsThis was a retrospective study of the patients with congenital adrenal hyperplasia in the pediatric outpatient clinic at the Samsung Medical Center from November 1994 to December 2012. We analyzed the medical records of 27 patients (male, 19; female, 8) with congenital adrenal hyperplasia who had been diagnosed by genetic testing to have 21-hydroxylase deficiency.ResultsIn genetic analysis of 54 alleles from 27 patients, 13 types of mutations were identified. The distribution of 21-hydroxylase deficiency gene mutations revealed that intron 2 splice site (c.293-13A/C>G) mutations and large deletions were the most common, at 31.5% and 22.2% respectively, followed by p.I173N, p.R356W, and p.I172N mutations at 11.1%, 9.3%, and 9.3%, respectively. Other mutations were observed at 1.9-3.7%. No novel mutations were detected.ConclusionThe analysis of 54 alleles revealed 13 types of mutation. The salt wasting form showed a good correlation between genotype and phenotype, but the simple virilizing and nonclassic forms showed inconsistencies between genotype and phenotype. The distribution of CYP21A2 mutations was evaluated for 21-hydroxylase deficiency patients from a single center. This study provides limited data on mutation spectrum and genotype-phenotype correlation of 21-hydroxylase deficiency in Korea.http://e-apem.org/upload/pdf/apem-18-128.pdf21 hydroxylase deficiencyHuman CYP21A2 proteinGenotypePhenotype |
| spellingShingle | Yangho Yoo Mi Sun Chang Jieun Lee Sung Yoon Cho Sung Won Park Dong-Kyu Jin Hyung-Doo Park Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center Annals of Pediatric Endocrinology & Metabolism 21 hydroxylase deficiency Human CYP21A2 protein Genotype Phenotype |
| title | Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center |
| title_full | Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center |
| title_fullStr | Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center |
| title_full_unstemmed | Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center |
| title_short | Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center |
| title_sort | genotype phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21 hydroxylase deficiency in a single center |
| topic | 21 hydroxylase deficiency Human CYP21A2 protein Genotype Phenotype |
| url | http://e-apem.org/upload/pdf/apem-18-128.pdf |
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