Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion

Abstract

summary Detection of Y-chromosome microdeletion is useful to obtain reliable genetic information for assisted reproductive techniques, thus avoiding unnecessary treatment and vertical transmission of genetic defects. Purposes This research was conducted over a six-year period to analyze clinical data, somatic cytogenetic abnormalities, and types of microdeletions in men with fertility disorders in Iran. Methods and Patients A total of 3654 infertile men were included in this study. Semen samples were analyzed according to standard methods. Conventional chromosomal karyotyping was used to analyze chromosome abnormalities.Polymerase chain reaction (PCR) amplification using nine specific sequence-tagged sites (STS) was used to detect AZF microdeletions. Results Out of the 3654 patients who were analyzed, AZF region microdeletions were detected in 185 cases (5.06 %). Karyotype analysis was available for 157 men and among them abnormal karyotypes were found in 51 cases (32.48 %). One hundred and forty-seven cases with Yq microdeletions suffered from azoospermia and 38 from severe oligozoospermia. Our data show that the most frequent microdeletions were in the AZFc region, followed by the AZFb+c+d, AZFb+c, AZFb, AZFa, and AZF a+c regions. Conclusion The study has confirmed that the detection of microdeletions in the AZF region is significant from a diagnostic viewpoint. It is also useful to obtain reliable genetic information from infertile men to determine the etiology of the deletions, and to avoid unnecessary treatments and vertical transmission of genetic defects.

Y-chromosome microdeletion and male infertility: a systematic review

“…Of the 32 selected studies 14 are from descriptive [1, 2, 4, 13, 24, 27-29, 31, 32, 34-37], 08 are cross-sectional [3,5,17,18,21,25,26,33], 05 are experimental [7,12,19,20,38], 03 are case reports [22,30,39] and 02 are case-control studies [10,23]. Studies have good methodological accuracy.…”

“…Studies have good methodological accuracy. The sample universe is quite heterogeneous, given the very design of the studies (22 case reports with 02 individuals up to 33 cross-sectional studies with 4, 441 individuals), age differences between individuals in the samples ranging from 17 years [10] to 66 years [21], as well as the origin of the patients who were: India [2,23,25,35], Brazil [3,31,34,36], China [4,10,17,18], Iran [1,7,19,21] Turkey [5,26,27] [20], Denmark [37], USA [22], england [38], Mexico [30], Serbia [28] and Venezuela [32]. Because of this situation, the data becomes divergent and the comparative analysis becomes troublesome.…”

“…al. [21] have reported 147 cases with Yq microdeletion who suffered azoospermia and 38 of them severe oligozoospermia. Deletion of the Ychromosome was found in the study of Ristanovic et.…”

Ubiquitin-specific protease (USP26) gene alterations associated with male infertility and recurrent pregnancy loss (RPL) in Iranian infertile patients

“…Chromosome analysis was performed using the GTG method (G-banding by Trypsin-Giemsa technique). Molecular analysis of Ychromosomal deletions included a combination of nine gene-based primers, as described previously [4].…”

“…In recent years, a lot of attention has been paid to genetic causes of male infertility. Yq microdeletions have been detected in 5 %-15 % of males with spermatogenic defect using specific sequence-tagged sites (STS) in long arm of Y chromosome [4]. In addition to Y chromosome microdeletion and mutation of autosome genes, X chromosomes are also closely related to male fertility; however, the underlying molecular mechanisms are still unknown [3,5].…”