Genetic disorders and male infertility

Kuroda, Shinnosuke; Usui, Kimitsugu; Sanjo, Hiroyuki; Takeshima, Teppei; Kawahara, Takashi; Uemura, Hiroji; Yumura, Yasushi

doi:10.1002/rmb2.12336

Cited by 41 publications

(30 citation statements)

References 118 publications

(186 reference statements)

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“…Another category of known genetic causes of azoospermia and severe oligozoospermia are Ychromosome microdeletions, specifically those in the Azoospermia Factor (AZF) region (Kuroda et al, 2020). Identification of specific deletions (i.e., AZFa, AZFb, or AZFc) can guide clinical management.…”

Section: Geneticsmentioning

confidence: 99%

Male fertility as a marker for health

Chen

Belladelli

Giudice

2022

Reproductive BioMedicine Online

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Male reproduction is a complex biologic process, and male factor infertility is increasingly recognized as a biomarker for overall male health. Emerging data suggests associations between male reproduction and medical disease (genetic, infectious, chronic comorbid conditions), psychological disease, environmental exposures, dietary habits, medications and substances of abuse, and even socioeconomic factors. There is also evidence that a diagnosis of male fertility is associated with future disease risk including cancer, metabolic disease, and mortality. As such, there is a growing view that the male fertility evaluation is an opportunity to improve a man's health beyond his immediate reproductive goals, and also highlights the necessity of a multidisciplinary approach.

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Section: Geneticsmentioning

confidence: 99%

Male fertility as a marker for health

Chen

Belladelli

Giudice

2022

Reproductive BioMedicine Online

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“…The AZFc region contains DAZ , GOLGA2LY , and CSPG4LY [ 42 ]. Complete AZFc deletion presents as various types of impaired spermatogenesis [ 43 ].…”

Section: Autosomal Abnormalitiesmentioning

confidence: 99%

Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology

Lee

Song

et al. 2021

Clin Exp Reprod Med

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A genetic etiology of male infertility is identified in fewer than 25% of infertile men, while 30% of infertile men lack a clear etiology, resulting in a diagnosis of idiopathic male infertility. Advances in reproductive genetics have provided insights into the mechanisms of male infertility, and a characterization of the genetic basis of male infertility may have broad implications for understanding the causes of infertility and determining the prognosis, optimal treatment, and management of couples. In a substantial proportion of patients with azoospermia, known genetic factors contribute to male infertility. Additionally, the number of identified genetic anomalies in other etiologies of male infertility is growing through advances in whole-genome amplification and next-generation sequencing. In this review, we present an up-to-date overview of the indications for appropriate genetic tests, summarize the characteristics of chromosomal and genetic diseases, and discuss the treatment of couples with genetic infertility by microdissection-testicular sperm extraction, personalized hormone therapy, and in vitro fertilization with pre-implantation genetic testing.

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“…Di-(2-ethylhexyl)-phthalate (DEHP) is a compound used as a plasticiser that can easily leach from the plastic into the environment. Mono-(2-ethylhexyl) phthalate (MEHP) is the metabolite of DEHP (Kuroda et al 2020). Trioctyl trimellitate (TOTM), a new plasticiser, may be the preferred plasticiser instead of DEHP for medical polyvinyl chloride instruments due to its good plasticising property, migration resistance, high temperature resistance and low toxicity (Sheikh et al 2016).…”

Section: Introductionmentioning

confidence: 99%

Comprehensive Analysis of the Association Between Human Non-obstructive Azoospermia and Plasticisers via Single-Cell and Traditional RNA Sequencing Methods

et al. 2022

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A father’s lifetime experience is a major risk factor for a range of diseases in an individual. The influences of exposure can also be transmitted to offspring. Previous studies demonstrated that plasticisers can damage the male offspring reproductive system, but the link between mammalian research and human non-obstructive azoospermia remains underexplored. Here, we analysed reproduction-related genes from four publicly available single-cell RNA-Seq datasets and RNA-Seq datasets on GEO databases to investigate the correlation between human non-obstructive azoospermia and exposure to plasticisers during pregnancy. The R software was used in statistical analyses. A total of 9 co-upregulated genes and 1 co-downregulated gene were found. The Gene Ontology enrichment analyses were performed using the “clusterProfiler” package. Single-cell analyses were conducted to visualise the gene expression pattern in testis cell subgroups. Immunohistochemical images were used to evaluate the level of protein in testicular organs from The Human Protein Atlas. GSVA results provided further functional annotations. Three signature genes, i.e. COL1A1, CYP17A1 and KIF11, might serve as promising diagnostic biomarkers in non-obstructive azoospermia caused by plasticisers. Our results provided a potential new protocol to evaluate the feasibility of life or clinical intervention in patients with non-obstructive azoospermia. We believe that these observations will improve our understanding of the potential mechanisms of plasticiser contributions to human non-obstructive azoospermia and help identify potential targets for immunotherapy in the future.

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Genetic disorders and male infertility

Cited by 41 publications

References 118 publications

Male fertility as a marker for health

Male fertility as a marker for health

Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology

Comprehensive Analysis of the Association Between Human Non-obstructive Azoospermia and Plasticisers via Single-Cell and Traditional RNA Sequencing Methods

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