Low frequency of Y- chromosome microdeletions among infertile men from the North-Adriatic region of Croatia

Medicina Fluminensis

Buretić-Tomljanović, Alena¹  Nadalin, Sergej¹  Marić, Natalia¹  Radojčić Badovinac, Anđelka¹  Vlastelić, Ivan² 

[1] Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka, HrvatskaDepartment of biology and medical genetics, School of medicine, University of Rijeka, Rijeka, Croatia;Odjel za humanu reprodukciju, Klinika za ginekologiju i opstetriciju, KBC Rijeka, Rijeka, HrvatskaDepartment of human reproduction, Clinics of ginecology and opstetrics, Clinical hospital Rijeka, Rijeka, Croatia

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

DOI  :  

学科分类：医学（综合）

来源: Medicina Fluminensis

【 摘 要 】

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.

【 授权许可】

Unknown