Low frequency of Y- chromosome microdeletions among infertile men from the North-Adriatic region of CroatiaReport as inadecuate

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Medicina, Vol.44 No.3-4 December 2008. -

Aim: The detection of microdeletions of AZF azoospermia factor region of Y-chromosome in men with severely impaired spermatogenesis is important since Y-chromosome microdeletions are transmitted to 100% of male offspring when using assisted reproduction methods.

Subjects and methods: We investigated the presence of chromosome-Y microdeletions in 129 men from North-Adriatic region of Croatia. Their clinical diagnoses were: azoospermia N=33, severe oligozoospermia sperm count less than 5 million-ml; N=25, oligozoospermia N=47, and asthenospermia N=24. Eighty four of them had idiopathic infertility, while the rest of them were also diagnosed with hypogonadism, cryptorchidism or varicocele. Molecular-genetic analysis was performed using four multiplex and one simplex polymerase chain reaction PCR. Twelve STS-markers were investigated. STS-markers: sY84, sY86, sY127, sY134, sY254, sY255, control marker sY14 SRY, and control pseudoautosomal locus ZFX-ZFY were analyzed according to recommendation of European Academy of Andrology. In cases of detected microdeletion six additional markers were analyzed: sY87, sY88, sY114, sY135, sY152, and sY157.

Results: Microdeletions were found in two men 2-129 or 1,55%. Both men were diagnosed with idiopathic azoospermia; therefore the frequency of microdeletions in the azoospermia group was 2-33 or 6,06%, while in the idiopathic azoospermia group was 2-18 or 11,1%. Chromosome Y microdeletions were not found in non-idiopathic infertility group nor control men N=100.

Conclusions: The frequency of microdeletions was lower in our sample than reported for many European populations. Idiopathic azoospermia carries the risk for diagnosis of Y- chromosome microdeletions in our population.

male infertility; azoospermia factor; microdeletions of chromosome Y; molecular-genetic analysis

Author: Alena Buretić-Tomljanović - ; Department of biology and medical genetics, School of medicine, University of Rijeka, Rijeka, Cro

Source: http://hrcak.srce.hr/


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