33 249

Cited 18 times in

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

Authors
Ko, JM; Cheon, CK; Kim, GH; Kim, SH; Kim, KS; Yoo, HW
Citation
Hormone research in paediatrics, 73(1):41-48, 2010
Journal Title
Hormone research in paediatrics
ISSN
1663-28181663-2826
Abstract
AIMS: 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.
MeSH terms
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/analysis/*deficiency/*geneticsAdolescentAndrogen-Insensitivity Syndrome/complications/geneticsAsian Continental Ancestry Group/geneticsChild, PreschoolDNA Mutational AnalysisDisorders of Sex Development/complications/geneticsFemaleGonadal Dysgenesis, 46,XY/complications/geneticsHumansInfantKoreaMaleMembrane Proteins/analysis/*deficiency/*geneticsPuberty, Delayed/complications/genetics
DOI
10.1159/000271915
PMID
20190539
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
AJOU Authors
고, 정민
Full Text Link
Export
RIS (EndNote)
XLS (Excel)
XML

qrcode

해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse