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Mol. Hum. Reprod. Advance Access originally published online on August 24, 2007
Molecular Human Reproduction 2007 13(10):745-750; doi:10.1093/molehr/gam053
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© The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene

A.M. Ottesen1, I.D. Garn, L. Aksglaede, A. Juul and E. Rajpert-De Meyts

Department of Growth and Reproduction, Juliane Marie Centre, Section GR-5064, The National University Hospital of Copenhagen, DK-2100 Copenhagen, Denmark

1 Correspondence address. Tel: +45-35-45-43-30; Fax: +45-35-45-60-54; E-mail: anne.marie.ottesen{at}rh.regionh.dk

Due to the high prevalence and variable phenotype of patients with Klinefelter syndrome, there is a need for a robust and rapid screening method allowing early diagnosis. Here, we report on the development and detailed clinical validation of a quantitative real-time PCR (qPCR)-based method of the copy number assessment of the androgen receptor (AR) gene, located to Xq11.2–q12. We analysed samples from 50 individuals, including a healthy male and female controls and patients with Klinefelter syndrome (47,XXY; 48,XXXY) (n = 28), mosaicisms (46,XX/47,XXY/48XXYY; 45,X/46,XY) (n = 3), other sex chromosome abnormalities (46,XX males; 47,XYY)(n = 4) and normal karyotypes (46,XY) (n = 13). The reference range for the AR-copy number was established as 0.8–1.2 for one copy and 1.7–2.3 for two copies. The qPCR results were within the reference range in 17/18 samples (94%) or 30/31 (97%) samples with one or two copies of the AR gene, respectively. None of the Klinefelter patients were misdiagnosed as having a karyotype with only one X-chromosome, and in none of the 46,XY males were two copies demonstrated. We systematically compared qPCR results with those obtained with another PCR-based method, the XIST-gene expression. The XIST-expression based assay was correct in only 29/36 samples (81%). Our findings demonstrated that the AR-qPCR technique is a simple and reliable screening method for diagnosis of patients with Klinefelter syndrome or other chromosomal disorders involving an aberrant number of X-chromosomes.

Key words: Klinefelter syndrome/qPCR technique/screening/X-chromosome

Submitted on July 6, 2007; accepted on July 17, 2007.


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