Clinical Characteristics, Cytogenetic and Molecular Findings in Patients with Disorders of Sex Development

• Published in: Journal of Huazhong University of Science and Technology. Medical sciences 2014-02, Vol.34 (1), p.81-86
• Main Author: 田莉 陈明 彭剑鸿 张建武 李黎
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Child; Child, Preschool; Chromosome Aberrations; Chromosome Banding; Chromosomes, Human, X - genetics; Chromosomes, Human, Y - genetics; Disorders of Sex Development - diagnosis; Disorders of Sex Development - genetics; Female; Gene Deletion; Genetic Loci - genetics; Humans; Karyotyping; Kruppel-Like Transcription Factors - genetics; Male; Medicine; Medicine & Public Health; Polymerase Chain Reaction; Sex Chromosome Aberrations; Sex-Determining Region Y Protein - genetics; SRY基因; Young Adult; 临床特征; 分子遗传学; 外周血淋巴细胞; 性别; 患者; 染色体核型; 细胞遗传学检测
• ISSN: 1672-0733; 1993-1352
• DOI: 10.1007/s11596-014-1235-y

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.