E-viri
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Buretić-Tomljanović, Alena; Vlastelić, Ivan; Marić, Natalia; Nadalin, Sergej; Radojčić Badovinac, Anđelka
Medicina, 03/2009, Letnik: 44, Številka: 3-4Journal Article
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.
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