Severe Oligozoospermia Resulting From Deletions of Azoospermia Factor Gene on Y Chromosome

Reijo, Renee A.; Alagappan, Raaji; Patrizio, Pasquale; Page, David C.

doi:10.1097/00006254-199611000-00020

Cited by 108 publications

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“…As mentioned before, in the present study, the AZFc deletion was the most common AZF microdeletion in patients with azoospermia and oligozoospermia; this finding was in agreement with other previous investigations [18,[29][30][31]. Approximately 1:4000 males (~13 % of azoospermic men and~6 % of men with severe oligospermia) were found to have microdeletions in the AZFc region [18,26,27,32]. Several candidate fertility genes have been discovered within the AZFc region.…”

Section: Discussionsupporting

confidence: 93%

“…In Western populations the frequency of Y-chromosome microdeletions in men with azoospermia and oligozoospermia varies between 1-35 %, depending on the population studied [25]. Stringent selection of patients according to histologic, endocrinologic, and clinical criteria are believed to be related to the detection of high deletion frequencies [26][27][28].…”

Section: Discussionmentioning

confidence: 99%

“…It has been suggested that men with AZFc deletions are capable of producing sperm, but some patients do not have any sperm production inside their seminiferous tubules [33]. In several studies patients with AZFc deletions have shown a good prognosis for successful retrieval of sperm during testicular sperm extraction (TESE), whereas patients with deletions in the AZFa and AZFb regions did not [19,26,34]. These findings are in agreement with those from this study where AZFa, AZFb, and all AZFb+c deletions were found only in azoospermic males.…”

Section: Discussionmentioning

confidence: 99%

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

Totonchi

Meybodi

Boroujeni

et al. 2012

J Assist Reprod Genet

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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.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

Totonchi

Meybodi

Boroujeni

et al. 2012

J Assist Reprod Genet

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“…The variation in the reported rate is likely caused by the difference in study design and patient cohort selection [4]. The initial cytogenetic observation of an azoospermia factor (AZF) present on Yq was made in 1976, which enabled molecular analysis of Yq microdeletion in infertile men for the first time [5][6][7][8]. Subsequently, the long arm of the Y chromosome was shown to contain three AZF regions, namely AZFa, AZFb, and AZFc, from proximal to distal Yq [8].…”

Section: Introductionmentioning

confidence: 99%

Y chromosome AZFc microdeletion may not affect the outcomes of ICSI for infertile males with fresh ejaculated sperm

Liu

Qiao

et al. 2013

J Assist Reprod Genet

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Purpose To explore whether the presence of a Y chromosome AZFc microdeletion confers any adverse effect on the outcomes of intracytoplasmic sperm injection (ICSI) with fresh ejaculated sperm. Methods A total of 143 oligozoospermia patients with Y chromosome AZFc microdeletion in ICSI cycles in a fiveyear period were studied. Infertile men with normal Y chromosome in ICSI at the same time-frame were used as controls matched to the study group for age of female, female's body mass index, male's age, infertility duration and number of oocytes retrieved. Retrospective case-control study was used. Results There were no significant differences between groups in clinical outcomes of endometrial thickness, transferred embryos, good embryo rates, implantation rates, biochemical pregnancy rates, clinical pregnancy rates, ectopic pregnancy rates, miscarriage rates, preterm birth rates, the ratio of male and female babies, newborn body height, newborn weight, low birth weight and birth defects (P>0.05). Patients with Y chromosome AZFc microdeletion had a lower fertilization rate (61.8 % vs. 67.8 %, P<0.05) and higher cleaved embryo rate (94.0 % vs. 88.1 %, P<0.05). Conclusions ICSI clinical outcomes for oligozoospermic patients with Y chromosome AZFc microdeletion are basically comparable to that of infertile patients with normal Y chromosomes. The results of ICSI were not affected by the AZFc deletion. Preimplantation genetic diagnosis (PGD) before ICSI for Y chromosome AZFc microdeletion may not be a justifiable regular procedure if the couples didn't care the vertical transmission of Y chromosome deletion.

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“…6 This region (now further subdivided into AZFa, b, and c), includes several genes involved in spermatogenesis, such as the gene termed "deleted in azoospermia" (DAZ). 7 The deletion frequency of this region in azoospermia and severe oligospermia varies, but it is generally accepted that the incidence of deletions in azoospermic men is approximately 8%-11%, and lower in severely oligospermic men. 8 Most state-of-the-art andrology laboratories employ a multiplex-PCR-based assay to diagnose men with nonobstructive azoospermia and men with severe oligospermia for Y chromosome micro-deletions.…”

mentioning

confidence: 99%

Risk of transmission of genetic diseases by assisted reproduction

Lipshultz

Lamb

2007

Nat Rev Urol

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Infertility devastates the life plans of 8%-12% of couples attempting to conceive for the first time. In about half of these cases a male factor is causative. Interestingly, research in male reproduction over the past 30 years has focused largely on the endocrine control of spermatogenesis and genital tract function, yet only about 1% of male infertility has an endocrine cause; thus, this research has had little effect on the treatment of the infertile male. With advancements in molecular medicine, researchers are now beginning to dissect the genes required for male fertility, although their approaches predominantly take advantage of ever-expanding collections of mouse models. 1 The advent of surgical sperm collection from the epididymis or testis and the development of intracytoplasmic sperm injection (ICSI) have provided the only major technological advances in recent years.While most textbooks state that approximately 30% of male infertility is idiopathic, some experts speculate that perhaps 50% of all male infertility is idiopathic. In part, this speculation reflects our poor understanding of the basic mechanisms that regulate genital tract differentiation and development, spermatogenesis, sperm maturation in the genital tract, and the molecular events required for fertilization and early embryonic development; and, hence, our inability to properly diagnose the cause of the infertility. Indeed, commonly used diagnostic categories for male infertility are descriptive and not usually mechanistically based. Accordingly, our ability to properly diagnose and counsel male factor infertile couples is limited. Nevertheless, research shows that genetic defects in male factor infertility are more common than originally believed. These findings have raised concerns that since the assisted reproductive technologies essentially overcome the natural barriers to defective sperm fertilization, mechanisms may now be bypassed that prevent the transmission of genetic defects to offspring of these genetically infertile men.Recognizing this diagnostic limitation, there are nevertheless important clinical genetic tests that should be used today in the diagnosis of the infertile male. The karyotype remains the gold standard of chromosomal analysis and provides important insights regarding the presence of both numerical and structural chromosome abnormalities. Although chromosomal abnormalities are uncommon in fertile men, routine karyotyping suggests that these abnormalities are present in about 6% of infertile men. 2 Defects include human trisomies that result from aberrant recombination during gametogenesis such as sex chromosome abnormalities, which are among the most common human trisomies. 3 For

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Severe Oligozoospermia Resulting From Deletions of Azoospermia Factor Gene on Y Chromosome

Cited by 108 publications

References 0 publications

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

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

Y chromosome AZFc microdeletion may not affect the outcomes of ICSI for infertile males with fresh ejaculated sperm

Risk of transmission of genetic diseases by assisted reproduction

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