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Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency.

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dc.contributor.authorKo, JM-
dc.contributor.authorCheon, CK-
dc.contributor.authorKim, GH-
dc.contributor.authorKim, SH-
dc.contributor.authorKim, KS-
dc.contributor.authorYoo, HW-
dc.date.accessioned2011-06-07T01:58:19Z-
dc.date.available2011-06-07T01:58:19Z-
dc.date.issued2010-
dc.identifier.issn1663-2818-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/2805-
dc.description.abstractAIMS: The aim of this study was to perform a 5alpha-reductase type 2 gene (SRD5A2) analysis in 6 Korean patients with external genitalia ranging from predominantly female to male in whom 5alpha-reductase type 2 deficiency was suspected.

PATIENTS: Six patients from five unrelated families participated, and all of their parents were non-consanguineous. Three patients presented with ambiguous genitalia at birth, and 2 were referred owing to delayed puberty. The other patient was presented incidentally during an operation for inguinal hernia. Basal and post-human chorionic gonadotropin-stimulated serum testosterone and dihydrotestosterone levels were determined, but neither the levels nor ratio yielded enough information for differential diagnosis. Confirmative diagnosis was achieved by SRD5A2 gene analysis.

RESULTS: Four different pathologic mutations were identified. All have already been reported, and are located in exon 1 (p.Q6X), exon 4 (p.G203S and c.655delT), and exon 5 (p.R246Q). p.R246Q was the most frequently identified mutation in our study, and c.655delT has been detected only in Korean patients to date.

CONCLUSION: The molecular analysis is the most reliable method for a correct diagnosis of 5alpha-reductase type 2 deficiency. Identification of mutations also enables genetic counseling for families at risk.
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dc.language.isoen-
dc.subject.MESH3-Oxo-5-alpha-Steroid 4-Dehydrogenase-
dc.subject.MESHAdolescent-
dc.subject.MESHAndrogen-Insensitivity Syndrome-
dc.subject.MESHAsian Continental Ancestry Group-
dc.subject.MESHChild, Preschool-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHDisorders of Sex Development-
dc.subject.MESHFemale-
dc.subject.MESHGonadal Dysgenesis, 46,XY-
dc.subject.MESHHumans-
dc.subject.MESHInfant-
dc.subject.MESHKorea-
dc.subject.MESHMale-
dc.subject.MESHMembrane Proteins-
dc.subject.MESHPuberty, Delayed-
dc.titleClinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency.-
dc.typeArticle-
dc.identifier.pmid20190539-
dc.identifier.urlhttp://content.karger.com/produktedb/produkte.asp?typ=fulltext&file=000271915-
dc.contributor.affiliatedAuthor고, 정민-
dc.type.localJournal Papers-
dc.identifier.doi10.1159/000271915-
dc.citation.titleHormone research in pædiatrics-
dc.citation.volume73-
dc.citation.number1-
dc.citation.date2010-
dc.citation.startPage41-
dc.citation.endPage48-
dc.identifier.bibliographicCitationHormone research in pædiatrics, 73(1). : 41-48, 2010-
dc.identifier.eissn1663-2826-
dc.relation.journalidJ016632818-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
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