Clin Hypertens.  2019 ;25(1):23. 10.1186/s40885-019-0128-6.

Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population

• Wang M
• Wang H
• Zhao H
• Li L
• Liu M
• Liu F
• Meng F
• Fan C

• KMID: 2468629
• DOI: http://doi.org/10.1186/s40885-019-0128-6

Abstract

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.

Keyword

17α-hydroxylase deficiency; Congenital adrenal hyperplasia; Hypertension; CYP17A1; Gene mutation

MeSH Terms

46, XY Disorders of Sex Development
Adrenal Hyperplasia, Congenital
Adrenocorticotropic Hormone
Asian Continental Ancestry Group*
Cytochrome P-450 Enzyme System
Estradiol
Exons
Female
Follicle Stimulating Hormone
Gonads
Humans
Hydrocortisone
Hypertension
Hypokalemia
Karyotype
Luteinizing Hormone
Prevalence*
Sexual Infantilism
Testosterone
Adrenocorticotropic Hormone
Cytochrome P-450 Enzyme System
Estradiol
Follicle Stimulating Hormone
Hydrocortisone
Luteinizing Hormone
Testosterone