Y chromosome microdeletions in Mexican males of couples with idiopathic recurrent pregnancy loss

Piña-Aguilar, Raúl E.; Martı́nez-Garza, Sandra; Kohls, Graciela; Vargas-Maciel, Marco A.; Lara, Luis G. Vázquez de; González-Ortega, Claudia; Cancino-Villarreal, Patricia; Gutiérrez-Gutiérrez, Antonio Martín

doi:10.1111/j.1447-0756.2011.01809.x

Cited by 14 publications

(6 citation statements)

References 38 publications

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“…[ 165 ] recently evaluated the contribution of Y chromosome microdeletions to RPL in Northeast China, by recruiting 1,072 men with a history of RPL and 971 infertile and 200 fertile males as controls. Their finding did not reveal an association between Y chromosome microdeletions and RPL, which is in accordance with previous studies [ 166 ], [ 167 ], [ 168 ] in Sri Lanka, Mexican and Iran. Till now, many possible explanations, such as selection of sequence-tagged sites (STSs) marker [ 165 ], extraction of DNA from different cells (peripheral blood or spermatozoa) [ 168 ], and sample size [ 163 ], have been suggested for this obvious discrepancy.…”

Section: Maternal and Paternal Genetic Factors Account For Rplsupporting

confidence: 91%

Understanding recurrent pregnancy loss: recent advances on its etiology, clinical diagnosis, and management

et al. 2022

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Recurrent pregnancy loss (RPL) has become an important reproductive health issue worldwide. RPL affects about 2%–3% of reproductive-aged women, and makes serious threats to women’s physical and mental health. However, the etiology of approximately 50% of RPL cases remains unknown (unexplained RPL), which poses a big challenge for clinical management of these patients. RPL has been widely regarded as a complex disease where its etiology has been attributed to numerous factors. Heretofore, various risk factors for RPL have been identified, such as maternal ages, genetic factors, anatomical structural abnormalities, endocrine dysfunction, prethrombotic state, immunological factors, and infection. More importantly, development and applications of next generation sequencing technology have significantly expanded opportunities to discover chromosomal aberrations and single gene variants responsible for RPL, which provides new insight into its pathogenic mechanisms. Furthermore, based upon patients’ diagnostic evaluation and etiologic diagnosis, specific therapeutic recommendations have been established. This review will highlight current understanding and recent advances on RPL, with a special focus on the immunological and genetic etiologies, clinical diagnosis and therapeutic management.

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Section: Maternal and Paternal Genetic Factors Account For Rplsupporting

confidence: 91%

Understanding recurrent pregnancy loss: recent advances on its etiology, clinical diagnosis, and management

et al. 2022

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“…Numerous studies have investigated the prevalence of YCM among men whose partner has experienced RPL, however, results were contradictory (70)(71)(72)(73)(74)(75)(76)(77)(78). Of the nine relevant papers, five studies state it is highly unlikely that an association exists between YCM and RPL (72,73,75,76,78). Two of the four papers suggesting an association does exist have been argued against due to their patient selection criteria and methodology which did not conform to the European Academy of Andrology or the European Molecular Genetics Quality Network guidelines (78).…”

Section: Recurrent Pregnancy Lossmentioning

confidence: 99%

The effects of Y chromosome microdeletions on in vitro fertilization outcomes, health abnormalities in offspring and recurrent pregnancy loss

Golin¹,

Yuen²,

Flannigan³

2021

Transl Androl Urol

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Male factor infertility accounts for approximately 50% of all infertility evaluations. A common cause of severe oligozoospermia and azoospermia is Y chromosome microdeletions (YCMs). Men with these genetic microdeletions must typically undergo assisted reproductive technology (ART) procedures to obtain paternity. In this review, we performed a thorough and extensive search of the literature to summarize the effects of YCMs on in vitro fertilization (IVF) outcomes, health abnormalities in offspring and recurrent pregnancy loss (RPL). The PubMed database was searched using specific search terms and papers were identified using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.Sperm retrieval amongst men with complete AZFa and/or AZFb deletions is extremely rare and thus data on ARTs is largely unavailable. In AZFc-deleted men undergoing assisted reproduction, the collective fertilization rate (FR) is 59.8%, the clinical pregnancy rate is 28.6% and the live birth rate is 23.4%.When successful, the YCM is always transmitted to the male offspring and the deletion size either remains unchanged or widens. YCMs generally result in decreased fertilization, clinical pregnancy and live birth rates compared to men with intact Y chromosomes during ART interventions. There is a minimal or absent association of YCMs with abnormalities in the offspring or RPL.

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“…There are few studies in Mexican populations analyzing the prevalence of Yq deletions in infertile men. Piña et al, studied the presence of Yq microdeletions in Mexican men from couples with recurrent pregnancy loss, they did not find microdeletions 26 . Martinez-Garza S.G, et al found that 12.2% of infertile males had microdeletions of AZFb or AZFc, however they did not analyze gr/gr microdeletions 27 .…”

Section: Discussionmentioning

confidence: 98%

AZFa, AZFb, AZFc and gr/gr Y-chromosome microdeletions in azoospermic and severe oligozoospermic patients, analyzed from a neural network perspective

Romo-Yáñez,

Sevilla-Montoya,

Pérez-González

et al. 2023

CIRUE

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Aim: Analysis of male infertility by molecular methods has increased since recognition of genetic risk factors. The AZFa, AZFb, AZFc, and gr/gr regions on the Y-chromosome can cause male infertility. The aim of this study was to determine the prevalence of Y-chromosome microdeletions in these regions in infertile Mexican patients. Material and methods: We recruited 57 infertile patients with abnormal sperm count (26 azoospermic and 31 oligozoospermic) and 55 individuals with normal sperm count. Analysis of the regions of interest was performed by PCR. Results: 15.8% of infertile patients presented Y-chromosome microdeletions, whereas no deletions were found in the control group. Deletions were observed in all the analyzed regions except in AZFa. Additionally, the neural network model revealed a mild genotype-phenotype correlation between deletion of the sY1191, sY1291 and sY254 markers with oligozoospermia, azoospermia and cryptozoospermia, respectively. Conclusions: Our data show that AZFb, AZFc, and gr/gr microdeletions are significantly associated with infertility in Mexican population. In addition, the neural network model revealed a discrete genotype-phenotype correlation between specific deletions and a particular abnormality. Our results reinforce the importance of the analysis of AZF regions as part of the clinical approach of infertile men.

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Y chromosome microdeletions in Mexican males of couples with idiopathic recurrent pregnancy loss

Cited by 14 publications

References 38 publications

Understanding recurrent pregnancy loss: recent advances on its etiology, clinical diagnosis, and management

Understanding recurrent pregnancy loss: recent advances on its etiology, clinical diagnosis, and management

The effects of Y chromosome microdeletions on in vitro fertilization outcomes, health abnormalities in offspring and recurrent pregnancy loss

AZFa, AZFb, AZFc and gr/gr Y-chromosome microdeletions in azoospermic and severe oligozoospermic patients, analyzed from a neural network perspective

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