Cited 5 times in
Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 권아름 | - |
dc.contributor.author | 김호성 | - |
dc.contributor.author | 서정환 | - |
dc.contributor.author | 송경철 | - |
dc.contributor.author | 채현욱 | - |
dc.date.accessioned | 2022-09-14T01:15:50Z | - |
dc.date.available | 2022-09-14T01:15:50Z | - |
dc.date.issued | 2021-03 | - |
dc.identifier.issn | 2287-1012 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/190368 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Korean Society of Pediatric Endocrinology | - |
dc.relation.isPartOf | ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학교실) | - |
dc.contributor.googleauthor | Hae In Lee | - |
dc.contributor.googleauthor | Ahreum Kwon | - |
dc.contributor.googleauthor | Jung Hwan Suh | - |
dc.contributor.googleauthor | Han Saem Choi | - |
dc.contributor.googleauthor | Kyung Chul Song | - |
dc.contributor.googleauthor | Hyun Wook Chae | - |
dc.contributor.googleauthor | Ho-Seong Kim | - |
dc.identifier.doi | 10.6065/apem.2040184.092 | - |
dc.contributor.localId | A00228 | - |
dc.contributor.localId | A01184 | - |
dc.contributor.localId | A05629 | - |
dc.contributor.localId | A06013 | - |
dc.contributor.localId | A04026 | - |
dc.relation.journalcode | J00175 | - |
dc.identifier.eissn | 2287-1292 | - |
dc.identifier.pmid | 33819959 | - |
dc.subject.keyword | Congenital adrenal hyperplasia | - |
dc.subject.keyword | High-throughput nucleotide sequencing | - |
dc.subject.keyword | Mutation | - |
dc.subject.keyword | Steroid 17-α-hydroxylase | - |
dc.contributor.alternativeName | Kwon, Ah Reum | - |
dc.contributor.affiliatedAuthor | 권아름 | - |
dc.contributor.affiliatedAuthor | 김호성 | - |
dc.contributor.affiliatedAuthor | 서정환 | - |
dc.contributor.affiliatedAuthor | 송경철 | - |
dc.contributor.affiliatedAuthor | 채현욱 | - |
dc.citation.volume | 26 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 66 | - |
dc.citation.endPage | 70 | - |
dc.identifier.bibliographicCitation | ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, Vol.26(1) : 66-70, 2021-03 | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.