Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population
| Autor: | Min Liu, Ling Li, Fujia Liu, Hao Wang, Meng-lin Wang, Hai-ying Zhao, Fansen Meng, Cai-ni Fan |
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| Rok vydání: | 2019 |
| Předmět: |
lcsh:Internal medicine
medicine.medical_specialty lcsh:Medicine Case Report 030209 endocrinology & metabolism Adrenocorticotropic hormone Gene mutation medicine.disease_cause 03 medical and health sciences 0302 clinical medicine Internal medicine CYP17A1 Internal Medicine medicine Congenital adrenal hyperplasia lcsh:RC31-1245 Testosterone Mutation 17α-hydroxylase deficiency business.industry lcsh:R medicine.disease Endocrinology 030220 oncology & carcinogenesis Hypertension Male pseudohermaphroditism Cardiology and Cardiovascular Medicine business Luteinizing hormone |
| Zdroj: | Clinical Hypertension Clinical Hypertension, Vol 25, Iss 1, Pp 1-9 (2019) |
| ISSN: | 2056-5909 |
| DOI: | 10.1186/s40885-019-0128-6 |
| Popis: | Background 17α-hydroxylase deficiency is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene. The major clinical presentation includes hypertension, hypokalemia, male pseudohermaphroditism and female gonadal dysplasia. Hundreds of pathogenic variants have been reported in this disorder, and some common mutations were found to be race-specific. Case presentation In this study, we reported 5 Chinese girls with 17α-hydroxylase deficiency from Henan Province. The patients all came to the hospital for hypertension, and they also presented with sexual infantilism. The average age of the patients was 14 years old, ranging from 12 to 17 years old. They all had reduced blood cortisol, estradiol (E2), and testosterone (TESTO) and increased adrenocorticotropic hormone (ACTH), follicle-stimulating hormone (FSH), and luteinizing hormone (LH). They all had the appearance of females; however, three of the chromosome karyotypes were 46XX, and two were 46XY. Conclusions All of the patients carried a mutation on the 329 amino acid of CYP17A1 exon 6. By summarizing the currently known pathogenic mutations of 17α-hydroxylase deficiency, we demonstrated the prevalence of these gene mutations in Chinese Han and non-Chinese populations. |
| Databáze: | OpenAIRE |
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