Two cases of 17α-hydroxylase/17,20-Iyase deficiency caused by the CYP17A1 mutation

被引：9

作者：

Lee, Hae In ^{[1
]}

Kwon, Ahreum ^{[1
]}

Suh, Jung Hwan ^{[1
]}

Choi, Han Saem ^{[1
]}

Song, Kyung Chul ^{[1
]}

Chae, Hyun Wook ^{[1
]}

Kim, Ho-Seong ^{[1
]}

机构：

[1] Yonsei Univ, Severance Childrens Hosp, Endocrine Res Inst, Dept Pediat,Coll Med, 501 Yonseiro, Seoul 03722, South Korea

来源：

ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2021年 / 26卷 / 01期

关键词：

Congenital adrenal hyperplasia; Steroid; 17-alpha-hydroxylase; Mutation; High-throughput nucleotide sequencing;

D O I：

10.6065/apem.2040184.092

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

17 alpha-hydroxylase/17,20-Iyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by diverse phenotypes resulting from specific mutations. Here, we report 2 phenotypic females with 17a-hydroxylase/17,20-Iyase deficiency: one with the 46,XX karyotype presenting primary amenorrhea and sexual infantilism, and the other with the 46,XY karyotype presenting a disorder of sexual development. In both cases, the serum levels of adrenocorticotropic hormone, 11-deoxycorticosterone, and gonadotropin were elevated, whereas the levels of testosterone and dehydroepiandrosterone were reduced. Next-generation sequencing revealed one patient with compound heterozygosity for p.Trpl7Ter (c.51G>A) and p.His373Leu (c.1118A>T), and the other with homozygosity for p.His373Leu (c.1118A>T). This report further describes 2 cases of 17 alpha-hydroxylase/17,20-Iyase deficiency in patients who harbored a p.His373Leu substitution, commonly found in Korean individuals, and presented diverse phenotypes.

引用

页码：66 / 70

页数：5

共 16 条

[1] Molecular modeling of human P450c17 (17α-hydroxylase/17,20-lyase):: Insights into reaction mechanisms and effects of mutations [J].