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

Authors
 Hae In Lee  ;  Ahreum Kwon  ;  Jung Hwan Suh  ;  Han Saem Choi  ;  Kyung Chul Song  ;  Hyun Wook Chae  ;  Ho-Seong Kim 
Citation
 ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, Vol.26(1) : 66-70, 2021-03 
Journal Title
ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
ISSN
 2287-1012 
Issue Date
2021-03
Keywords
Congenital adrenal hyperplasia ; High-throughput nucleotide sequencing ; Mutation ; Steroid 17-α-hydroxylase
Abstract
17α-hydroxylase/17,20-lyase 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 17α-hydroxylase/17,20-lyase 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.Trp17Ter (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 17α-hydroxylase/17,20-lyase deficiency in patients who harbored a p.His373Leu substitution, commonly found in Korean individuals, and presented diverse phenotypes.
Files in This Item:
T202126041.pdf Download
DOI
10.6065/apem.2040184.092
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kwon, Ah Reum(권아름) ORCID logo https://orcid.org/0000-0002-9692-2135
Kim, Ho Seong(김호성) ORCID logo https://orcid.org/0000-0003-1135-099X
Suh, Junghwan(서정환) ORCID logo https://orcid.org/0000-0002-2092-2585
Song, Kyungchul(송경철) ORCID logo https://orcid.org/0000-0002-8497-5934
Chae, Hyun Wook(채현욱) ORCID logo https://orcid.org/0000-0001-5016-8539
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/190368
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