Clinical characteristics, cytogenetic and molecular findings in patients with disorders of sex development.
The clinical characteristics of patients with disorders of sex development (DSD), and the diagnostic values of classic cytogenetic and molecular genetic assays for DSD were investigated. In the enrolled 56 cases, there were 9 cases of 46,XY DSD, 6 cases of Turner syndrome (TS), one case of Super female syndrome, 25 cases of Klinefelter syndrome, 14 cases of 46,XX DSD, and one case of autosomal balanced rearrangements with hypospadias. The diagnosis of sex was made through physical examination, cytogenetic assay, ultrasonography, gonadal biopsy and hormonal analysis. PCR was used to detect SRY, ZFX, ZFY, DYZ3 and DYZ1 loci on Y and X chromosomes respectively. The DSD patients with the same category had similar clinical characteristics. The karyotypes in peripheral blood lymphocytes of all patients were identified. PCR-based analysis showed presence or absence of the X/Y-linked loci in several cases. Of the 9 cases of 46,XY DSD, 6 were positive for SRY, 9 for ZFX/ZFY, 9 for DYZ3 and 8 for DYZ1 loci. Of the 6 cases of TS, only 1 case with the karyotype of 45,X,/46,XX/46,XY was positive for all 5 loci. Of the 25 cases of Klinefelter syndrome, all were positive for all 5 loci. In one case of rare Klinefelter syndrome variants azoospermia factor (AZF) gene detection revealed the loss of the AZFa+AZFb region. In 14 cases of 46,XX DSD, 7 cases were positive for SRY, 14 for ZFX, 7 for ZFY, 7 for ZYZ3, and 5 for DYZ1. PCR can complement and also confirm cytogenetic studies in the diagnosis of sex in cases of DSD.
Department of Blood Transfusion, Zhongnan Hospital of Wuhan University, Wuhan, 430071, China. litian1971@sina.com.
Li
L
Tian
Department of Blood Transfusion, Zhongnan Hospital of Wuhan University, Wuhan, 430071, China.
Ming
M
Chen
Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan, 430071, China.
Jian-Hong
JH
Peng
Department of Clinical Laboratory, Zhongnan Hospital of Wuhan University, Wuhan, 430071, China.
Jian-Wu
JW
Zhang
Department of Clinical Laboratory, Zhongnan Hospital of Wuhan University, Wuhan, 430071, China.
Li
L
Li
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D056426:Genetic Loci / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D051741:Kruppel-Like Transcription Factors / Q000235:genetics; D008297:Male; D016133:Polymerase Chain Reaction; D012729:Sex Chromosome Aberrations; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D055815:Young Adult
D051741:Kruppel-Like Transcription Factors; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; C054430:ZFY protein, human; C062076:zinc finger protein, X-linked