Y Chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

Mitra, Anurag ; Dada, Rima ; Kumar, Rajeev ; Gupta, Narmada Prasad ; Kucheria, Kiran ; Gupta, Satish Kumar (2006) Y Chromosome microdeletions in azoospermic patients with Klinefelter's syndrome Asian Journal of Andrology, 8 (1). pp. 81-88. ISSN 1008-682X

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Official URL: http://onlinelibrary.wiley.com/doi/10.1111/j.1745-...

Related URL: http://dx.doi.org/10.1111/j.1745-7262.2006.00083.x


Aim: To study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelter's 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.

Item Type:Article
Source:Copyright of this article belongs to Chinese Electronic Periodical Services.
Keywords:Azoospermia; Azoospermia Factor; Follicle Stimulating Hormone; Klinefelter's Syndrome; Y Chromosome; Microdeletion
ID Code:72129
Deposited On:28 Nov 2011 06:21
Last Modified:28 Nov 2011 06:21

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