Male infertility

Eisenberg, Michael L.; Esteves, Sandro C.; Lamb, Dolores J.; Hotaling, James M.; Giwercman, Aleksander; Hwang, Kathleen; Cheng, Yu-Sheng

doi:10.1038/s41572-023-00459-w

Cited by 61 publications

(26 citation statements)

References 296 publications

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“…(1) Male infertility, which accounts for half of infertile cases, is a multifactorial disease with common phenotypes, including oligo/azoospermia (poor sperm count or absence of spermatozoa); teratozoospermia (aberrant sperm morphology); asthenozoospermia (weakened sperm motility); and a combination of these phenotypes, such as asthenoteratozoospermia, oligoasthenozoospermia, oligoteratozoospermia and oligoasthenoteratozoospermia. (2,3) Asthenoteratozoospermia is one of the most common phenotypes of male infertility, and genetic factors have been established as the predominant cause of asthenoteratozoospermia.…”

Section: Introductionmentioning

confidence: 99%

DNAH3 deficiency causes flagellar inner dynein arm loss and male infertility in humans and mice

Wang,

Shen,

Yang

et al. 2024

Preprint

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Axonemal protein complexes, including the outer and inner dynein arms (ODA/IDA), are highly ordered structures of the sperm flagella that drive sperm motility. Deficiencies in several axonemal proteins have been associated with male infertility, which is characterized by asthenozoospermia or asthenoteratozoospermia. Dynein axonemal heavy chain 3 (DNAH3) resides in the IDA and is highly expressed in the testis. However, the relationship between DNAH3 and male infertility is still unclear. Herein, we identified biallelic variants ofDNAH3in four unrelated Han Chinese infertile men with asthenoteratozoospermia through whole-exome sequencing (WES). These variants contributed to deficient DNAH3 expression in the patients’ sperm flagella. Importantly, the patients represented the anomalous sperm flagellar morphology, and the flagellar ultrastructure was severely disrupted. Intriguingly,Dnah3knockout (KO) male mice were also infertile, especially showing the severe reduction in sperm movement with the abnormal IDA and mitochondrion structure. Mechanically, nonfunctional DNAH3 expression resulted in decreased expression of IDA-associated proteins in the spermatozoa flagella of patients and KO mice, including DNAH1, DNAH6, and DNALI1, the deletion of which has been involved in disruption of sperm motility. Moreover, the infertility of patients withDNAH3variants andDnah3KO mice could be rescued by intracytoplasmic sperm injection (ICSI) treatment. Our findings indicated thatDNAH3is a novel pathogenic gene for asthenoteratozoospermia and may further contribute to the diagnosis, genetic counseling, and prognosis of male infertility.

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Section: Introductionmentioning

confidence: 99%

DNAH3 deficiency causes flagellar inner dynein arm loss and male infertility in humans and mice

Wang,

Shen,

Yang

et al. 2024

Preprint

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“…Infertility has become a severe medical issue that affects 8-12% of couples globally [ 2 ]. Male factors causing infertility, such as testicular dysfunction, endocrine disorders, factors associated with lifestyle, including tobacco and obesity, congenital anatomical factors, exposure to gonadotoxic agents, and aging, are all possible causes of infertility or decreased fertility [ 3 ]. Male infertility is evaluated with a thorough medical history, physical examination, and specific laboratory investigations, such as semen analysis, fructose test, and hormonal profile.…”

Section: Introductionmentioning

confidence: 99%

Resolving Male Infertility: A Case Report on Treating Obstructive Azoospermia Using SpermMobil in Intracytoplasmic Sperm Injection Procedure

Tej,

Pareek,

Kalbande

et al. 2024

Cureus

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Infertility affects couples worldwide. Among these, obstructive azoospermia (OA) is a common cause. In some cases, the lack of spermatozoa in ejaculation results from blockages in the male reproductive tract. In this case study, we discuss an infertile male diagnosed with OA following three years of unsuccessful attempts at conception. The male had a history of bilateral inguinal hernia repair due to congenital bilateral absence of the vas deferens. Diagnostic assessments confirmed azoospermia. Microscopic epididymal sperm aspiration (MESA) was performed for sperm retrieval due to its efficacy and reduced postoperative pain, testicular atrophy, and decreased testosterone levels. The retrieved sperm was processed using SpermMobil media for intracytoplasmic sperm injection. Following successful fertilization, embryo transfers resulted in a positive pregnancy test. This case highlights the significance of specific treatment approaches for OA, specifically the effectiveness of MESA and SpermMobil in achieving successful outcomes in assisted reproduction technology for male infertility.

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“…Infertility is a significant global health concern, estimated to impact 72.4 million individuals worldwide [1]. Male factors are implicated in 30-50% of infertility cases among couples of reproductive age [2]. Male infertility is a multifaceted condition influenced by a combination of environmental and genetic factors [3], and it encompasses a wide range of subcategories, each involving various qualitative and quantitative sperm defects [4].…”

Section: Introductionmentioning

confidence: 99%

Elucidating the Role of OXPHOS Variants in Asthenozoospermia: Insights from Whole Genome Sequencing and an In Silico Analysis

Kyrgiafini,

Giannoulis,

Chatziparasidou

et al. 2024

IJMS

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Infertility is a global health challenge that affects an estimated 72.4 million people worldwide. Between 30 and 50% of these cases involve male factors, showcasing the complex nature of male infertility, which can be attributed to both environmental and genetic determinants. Asthenozoospermia, a condition characterized by reduced sperm motility, stands out as a significant contributor to male infertility. This study explores the involvement of the mitochondrial oxidative phosphorylation (OXPHOS) system, crucial for ATP production and sperm motility, in asthenozoospermia. Through whole-genome sequencing and in silico analysis, our aim was to identify and characterize OXPHOS gene variants specific to individuals with asthenozoospermia. Our analysis identified 680,099 unique variants, with 309 located within OXPHOS genes. Nine of these variants were prioritized due to their significant implications, such as potential associations with diseases, effects on gene expression, protein function, etc. Interestingly, none of these variants had been previously associated with male infertility, opening up new avenues for research. Thus, through our comprehensive approach, we provide valuable insights into the genetic factors that influence sperm motility, laying the foundation for future research in the field of male infertility.

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Male infertility

Cited by 61 publications

References 296 publications

DNAH3 deficiency causes flagellar inner dynein arm loss and male infertility in humans and mice

DNAH3 deficiency causes flagellar inner dynein arm loss and male infertility in humans and mice

Resolving Male Infertility: A Case Report on Treating Obstructive Azoospermia Using SpermMobil in Intracytoplasmic Sperm Injection Procedure

Elucidating the Role of OXPHOS Variants in Asthenozoospermia: Insights from Whole Genome Sequencing and an In Silico Analysis

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