Microdeleciones de las regiones AZFa, AZFb, AZFc y gr/gr del cromosoma Y en pacientes con azoospermia y oligozoospermia severa, análisis desde una perspectiva de red neuronal

Romo-Yáñez, José; Sevilla‐Montoya, Rosalba; Pérez-González, E.A.; Laresgoiti-Servitje, Estibalitz; Espino-Sosa, Salvador; Domínguez-Castro, Mauricio; Razo-Aguilera, Guadalupe; Hidalgo‐Bravo, Alberto; Aguinaga‐Ríos, Mónica

doi:10.24875/ciru.20001058

Cited by 3 publications

(3 citation statements)

References 5 publications

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“…Y chromosomal microdeletions have been identified in a varying number of infertile males around the world [ 31 ]. If AZF microdeletions are found in a patient’s primary screening, further investigation is advised in the AZFa subregion [ 19 , 32 ]. Two genes, including ubiquitin specific peptidase 9 Y-linked ( USP9Y ) and DBY , also known as DDX3Y , are present in AZFa.…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms and expression levels of TNP2, SYCP3, and AZFa genes in patients with azoospermia

Jebur,

Dastmalchi,

Banamolaei

et al. 2023

Clin Exp Reprod Med

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Objective: Azoospermia (the total absence of sperm in the ejaculate) affects approximately 10% of infertile males. Despite diagnostic advances, azoospermia remains the most challenging issue associated with infertility treatment. Our study evaluated transition nuclear protein 2 (TNP2) and synaptonemal complex protein 3 (SYCP3) polymorphisms, azoospermia factor a (AZFa) microdeletion, and gene expression levels in 100 patients with azoospermia. Methods: We investigated a TNP2 single-nucleotide polymorphism through polymerase chain reaction (PCR) restriction fragment length polymorphism analysis using a particular endonuclease. An allele-specific PCR assay for SYCP3 was performed utilizing two forward primers and a common reverse primer in two PCR reactions. Based on the European Academy of Andrology guidelines, AZFa microdeletions were evaluated by multiplex PCR. TNP2, SYCP3, and the AZFa region main gene (DEAD-box helicase 3 and Y-linked [DDX3Y]) expression levels were assessed via quantitative PCR, and receiver operating characteristic curve analysis was used to determine the diagnostic capability of these genes. Results: The TNP2 genotyping and allelic frequency in infertile males did not differ significantly from fertile volunteers. In participants with azoospermia, the allelic frequency of the SYCP3 mutant allele (C allele) was significantly altered. Deletion of sY84 and sY86 was discovered in patients with azoospermia and oligozoospermia. Moreover, SYCP3 and DDX3Y showed decreased expression levels in the azoospermia group, and they exhibited potential as biomarkers for diagnosing azoospermia (area under the curve, 0.722 and 0.720, respectively). Conclusion: These results suggest that reduced SYCP3 and DDX3Y mRNA expression profiles in testicular tissue are associated with a higher likelihood of retrieving spermatozoa in individuals with azoospermia. The homozygous genotype TT of the SYCP3 polymorphism was significantly associated with azoospermia.

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Section: Discussionmentioning

confidence: 99%

Polymorphisms and expression levels of TNP2, SYCP3, and AZFa genes in patients with azoospermia

Jebur,

Dastmalchi,

Banamolaei

et al. 2023

Clin Exp Reprod Med

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“…Mất đoạn NST Y chiếm 10-15% vô tinh không tắc nghẽn và 5-10% thiểu tinh nặng. Mất đoạn thường gặp nhất là ở vùng AZFc (khoảng 80%), tiếp theo là AZFb (1-3%) và AZFa (0,5 -4%) [7].…”

Section: đặT Vấn đềunclassified

Bất thường di truyền ở bệnh nhân vô tinh đến khám tại Bệnh viện Phụ sản - Nhi Đà Nẵng

Phạm,

Nguyễn,

Nguyễn

et al. 2023

TC Phụ sản

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Mục tiêu: Khảo sát các bất thường di truyền ở bệnh nhân vô tinh đến khám và điều trị tại Bệnh viện Phụ sản - Nhi Đà Nẵng. Đối tượng và phương pháp nghiên cứu: Nghiên cứu mô tả cắt ngang gồm 62 bệnh nhân vô tinh đến khám tại Bệnh viện Phụ sản - Nhi Đà Nẵng từ tháng 12/2020 - 9/2023. Kết quả: Tỉ lệ bất thường di truyền là 11,3% (07/62) bao gồm hội chứng Klinefelter chiếm 3,2% và vi mất đoạn nhiễm sắc thể (NST) Y chiếm 8,1%. Không ghi nhận trường hợp nào vi mất đoạn NST Y ở vùng AZFa và AZFb. Tỉ lệ vi mất đoạn NST Y vùng AZFc, AZFd và AZFc+d lần lượt là 60%, 20% và 20%. Tỉ lệ đa hình NST là 37,1%, trong đó, có 1 trường hợp tăng chiều dài vùng dị nhiễm sắc chất trên cánh dài NST Y (46, XY,Yqh+), chiếm 4,3% (1/23). Kết luận: Vi mất đoạn NST chiếm tỉ lệ cao nhất trong số các bất thường di truyền. Trong nghiên cứu này, đa hình NST chiếm tỉ lệ tương đối cao .

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“…Microdeletions on the Y chromosome were observed in 15.8% of infertile patients but not in the control group. A genotype-phenotype connection between the deletion of the sY1191, sY1291, and sY254 markers and oligozoospermia, azoospermia, and cryptozoospermia was also identified using a neural network model [13 ▪▪ ]. Another study assessed Y microdeletion in 1030 infertile male patients utilizing the PCR-reverse sequence-specific oligonucleotide (PCR-rSSO) technique.…”

Section: Geneticsmentioning

confidence: 99%

Counseling for the man with severe male infertility

Belladelli

Muncey

Seranio

2022

Current Opinion in Urology

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Purpose of reviewThis review summarize the proper counseling for men with severe male factor infertility.Recent findingsMen who are experiencing infertility should have a semen analysis, the results of which may imply additional investigations, including genetic and hormonal. Moreover, possible modifiable factors that may harm men's reproductive health should be carefully evaluated. Finally, different treatment options are available.SummaryApproximately 15% of couples struggle with infertility. Complete evaluations of both men and women are required to determine the etiology of infertility and determine appropriate treatment.

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Microdeleciones de las regiones AZFa, AZFb, AZFc y gr/gr del cromosoma Y en pacientes con azoospermia y oligozoospermia severa, análisis desde una perspectiva de red neuronal

Abstract: Microdeleciones de las regiones AZFa, AZFb, AZFc y gr/gr del cromosoma Y en pacientes con azoospermia y oligozoospermia severa, análisis desde una perspectiva de red neuronal

Cited by 3 publications

References 5 publications

Polymorphisms and expression levels of TNP2, SYCP3, and AZFa genes in patients with azoospermia

Polymorphisms and expression levels of TNP2, SYCP3, and AZFa genes in patients with azoospermia

Bất thường di truyền ở bệnh nhân vô tinh đến khám tại Bệnh viện Phụ sản - Nhi Đà Nẵng

Counseling for the man with severe male infertility

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