دورية أكاديمية
Clinical Characterization and Analysis of the SRD5A2 Gene in Six Korean Patients with 5α-Reductase Type 2 Deficiency
| العنوان: | Clinical Characterization and Analysis of the SRD5A2 Gene in Six Korean Patients with 5α-Reductase Type 2 Deficiency |
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| المؤلفون: | Ko, Jung Min, Cheon, Chong-Kun, Kim, Gu-Hwan, Kim, Sung Hoon, Kim, Kun Suk, Yoo, Han-Wook |
| المصدر: | Hormone Research in Paediatrics ; volume 73, issue 1, page 41-48 ; ISSN 1663-2818 1663-2826 |
| بيانات النشر: | S. Karger AG |
| سنة النشر: | 2010 |
| الوصف: | Aims: The aim of this study was to perform a 5α-reductase type 2 gene (SRD5A2) analysis in 6 Korean patients with external genitalia ranging from predominantly female to male in whom 5α-reductase type 2 deficiency was suspected. Patients: Six patients from five unrelated families participated, and all of their parents were non-consanguineous. Three patients presented with ambiguous genitalia at birth, and 2 were referred owing to delayed puberty. The other patient was presented incidentally during an operation for inguinal hernia. Basal and post-human chorionic gonadotropin-stimulated serum testosterone and dihydrotestosterone levels were determined, but neither the levels nor ratio yielded enough information for differential diagnosis. Confirmative diagnosis was achieved by SRD5A2 gene analysis. Results: Four different pathologic mutations were identified. All have already been reported, and are located in exon 1 (p.Q6X), exon 4 (p.G203S and c.655delT), and exon 5 (p.R246Q). p.R246Q was the most frequently identified mutation in our study, and c.655delT has been detected only in Korean patients to date. Conclusion: The molecular analysis is the most reliable method for a correct diagnosis of 5α-reductase type 2 deficiency. Identification of mutations also enables genetic counseling for families at risk. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1159/000271915 |
| الإتاحة: | https://doi.org/10.1159/000271915Test https://www.karger.com/Article/Pdf/271915Test |
| حقوق: | https://www.karger.com/Services/SiteLicensesTest ; https://www.karger.com/Services/SiteLicensesTest |
| رقم الانضمام: | edsbas.40FB9D52 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1159/000271915 |
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