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Abstract

Volume 8, Issue 1 (January 2006) 8, 81–88; 10.1111/j.1745-7262.2006.00083.x

Y chromosome microdeletions in azoospermic patients with Klinefelter s syndrome

Anurag Mitra, Rima Dada, Rajeev Kumar, Narmada Prasad Gupta, Kiran Kucheria and Satish Kumar Gupta

1.Gamete Antigen Laboratory, National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110067, India
2.Department of Anatomy, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India
3.Department of Urology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India

Correspondence: Dr Satish Kumar Gupta, Gamete Antigen Laboratory, National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067, India. Fax: +91-11-2616-2125. E-mail: skgupta@nii.res.in

Received 19 January 2005; Accepted 22 June 2005.

Abstract

Aim: To study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelters syndrome (KFS).

Methods: Blood and semen samples were collected from azoospermic patients with KFS (n= 14) and a control group of men of proven fertility (n= 13). Semen analysis was done according to World Health Organization (WHO) guidelines. Blood samples were processed for karyotyping, fluorescent in situ hybridization (FISH) and measurement of plasma follicle stimulating hormone (FSH) by radioimmunoassay. To determine Y chromosome microdeletions, polymerase chain reaction (PCR) of 16 sequence tagged sites (STS) and three genes (DFFRY, XKRY and RBM1Y) was performed on isolated genomic DNA. Testicular fine needle aspiration cytology (FNAC) was done in selected cases.

Results: Y chromosome microdeletions spanning the azoospermia factor (AZF)a and AZFb loci were found in four of the 14 azoospermic patients with KFS. Karyotype and FISH analysis revealed that, of the four cases showing Y chromosome microdeletion, three cases had a 47,XXY/ 46,XY chromosomal pattern and one case had a 46,XY/ 47,XXY/ 48,XXXY/ 48,XXYY chromosomal pattern. The testicular FNAC of one sample with Y chromosome microdeletion revealed Sertoli cell-only type of morphology. However, no Y chromosome microdeletions were observed in any of the 13 fertile men. All patients with KFS had elevated plasma FSH levels.

Conclusion: Patients with KFS may harbor Y chromosome microdeletions and screening for these should be a part of their diagnostic work-up, particularly in those considering assisted reproductive techniques.

Keywords: azoospermia, azoospermia factor, follicle stimulating hormone, Klinefelter's syndrome, Y chromosome, microdeletion

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