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Reproductive Sciences (Thousand Oaks,... Jan 2024As a rare disease leading to male infertility, idiopathic hypogonadotropic hypogonadism (IHH) has strong heterogeneity of clinical phenotype and gene mutation. At...
As a rare disease leading to male infertility, idiopathic hypogonadotropic hypogonadism (IHH) has strong heterogeneity of clinical phenotype and gene mutation. At present, there is no effective diagnosis and treatment method for this disease. This study is to explore the possible new pathogenic gene of idiopathic hypogonadotrophic hypogonadism and the pathological mechanism affecting its occurrence. We performed a whole-exome sequencing on 9 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH), 19 varicocele patients with asthenospermia, oligospermia, or azoospermia, 5 patients with simple nonobstructive azoospermia, and 13 normal healthy adult males and carried out comparative analysis, channel analysis, etc. After preliminary sequencing screening, 309-431 genes harbouring variants, including SNPs and indels, were predicted to be harmful per single patient in each group. In genetic variations of nIHH patients' analysis, variants were detected in 10 loci and nine genes in nine patients. And in co-analysis of the three patient groups, nine nIHH patients, 19 VC patients, and five SN patients shared 116 variants, with 28 variant-harbouring genes detected in five or more patients. We found that the NEFH, CCDC177, and PCLO genes and the Gene Ontology pathways GO:0051301: cell division and GO:0090066: regulation of anatomical structure size may be key factors in the pathogenic mechanism of IHH. Our results suggest that the pathogenic mechanism of IHH is not limited to the central nervous system effects of GnRH but may involve other heterogeneous pathogenic genetic variants that affect peripheral organs.
Topics: Adult; Humans; Male; Azoospermia; Exome Sequencing; Varicocele; Hypogonadism; Mutation
PubMed: 37679557
DOI: 10.1007/s43032-023-01337-2 -
The Journal of Clinical Endocrinology... Jan 2024Obesity increases risks of male infertility, but bariatric surgery does not improve semen quality. Recent uncontrolled studies suggest that a low-energy diet (LED)... (Randomized Controlled Trial)
Randomized Controlled Trial
INTRODUCTION
Obesity increases risks of male infertility, but bariatric surgery does not improve semen quality. Recent uncontrolled studies suggest that a low-energy diet (LED) improves semen quality. Further evaluation within a randomized, controlled setting is warranted.
METHODS
Men with obesity (18-60 years) with normal sperm concentration (normal count) (n = 24) or oligozoospermia (n = 43) were randomized 1:1 to either 800 kcal/day LED for 16 weeks or control, brief dietary intervention (BDI) with 16 weeks' observation. Semen parameters were compared at baseline and 16 weeks.
RESULTS
Mean age of men with normal count was 39.4 ± 6.4 in BDI and 40.2 ± 9.6 years in the LED group. Mean age of men with oligozoospermia was 39.5 ± 7.5 in BDI and 37.7 ± 6.6 years in the LED group. LED caused more weight loss than BDI in men with normal count (14.4 vs 6.3 kg; P < .001) and men with oligozoospermia (17.6 vs 1.8 kg; P < .001). Compared with baseline, in men with normal count total motility (TM) increased 48 ± 17% to 60 ± 10% (P < .05) after LED, and 52 ± 8% to 61 ± 6% (P < .0001) after BDI; progressive motility (PM) increased 41 ± 16% to 53 ± 10% (P < .05) after LED, and 45 ± 8% to 54 ± 65% (P < .001) after BDI. In men with oligozoospermia compared with baseline, TM increased 35% [26] to 52% [16] (P < .05) after LED, and 43% [28] to 50% [23] (P = .0587) after BDI; PM increased 29% [23] to 46% [18] (P < .05) after LED, and 33% [25] to 44% [25] (P < .05) after BDI. No differences in postintervention TM or PM were observed between LED and BDI groups in men with normal count or oligozoospermia.
CONCLUSION
LED or BDI may be sufficient to improve sperm motility in men with obesity. The effects of paternal dietary intervention on fertility outcomes requires investigation.
Topics: Male; Humans; Semen Analysis; Sperm Motility; Oligospermia; Semen; Sperm Count; Infertility, Male; Spermatozoa; Obesity
PubMed: 37656983
DOI: 10.1210/clinem/dgad523 -
Is There an Association Between Dietary Antioxidant Levels and Sperm Parameters in Male Infertility?Cureus Aug 2023Oxidative stress is known as a mechanism underlying male infertility; it is defined as an imbalance between pro-oxidants and antioxidants leading to DNA damage,...
INTRODUCTION
Oxidative stress is known as a mechanism underlying male infertility; it is defined as an imbalance between pro-oxidants and antioxidants leading to DNA damage, peroxidation of plasma membrane lipids, and protein oxidation. This study was conducted to investigate the relationship between total antioxidant capacity and sperm parameters in male infertility.
METHODS
A total of 187 men with infertility (asthenospermia group (n=51), oligospermia group (n=40), and control group (n=96) were included in the current study. The following risk factors were recorded: age, sperm volume, sperm motility, hormone levels, and dietary antioxidant content.
RESULTS
Demographic parameters and hormone levels of cases showed no statistically significant difference between groups (p > 0.05). Semen volume, motility, vitamin A, retinol, vitamin D, and vitamin C levels were statistically significantly lower in the asthenospermia and oligospermia groups (p < 0.05). According to the logistic regression model, lower vitamin A, retinol, vitamin D, and vitamin C levels were risk factors for poor sperm outcomes (p < 0.001). Conclusıon: Male infertility with poor sperm outcomes should have an assessment of antioxidant capacity and nutritional specialization including food high in antioxidants could improve sperm parameters in asthenospermia and oligospermia and it could be used for therapeutic opportunities.
PubMed: 37649928
DOI: 10.7759/cureus.44339 -
Gene Dec 2023Naturally occurring balanced, unbalanced, and complex chromosomal rearrangements have been reported to cause pathogenic genomic or genetic variants leading to...
Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage.
Naturally occurring balanced, unbalanced, and complex chromosomal rearrangements have been reported to cause pathogenic genomic or genetic variants leading to infertility and recurrent miscarriage. Therefore, balanced chromosomal rearrangements were used as genomic signposts for identification of candidate genes or genomic loci associated with male infertility due to defects of spermatogenesis, or with recurrent miscarriage. In three male probands, structural chromosomal variants and copy number variants were identified at nucleotide resolution by long-insert genome sequencing approaches and Sanger sequencing. The pathogenic potential of these and affected candidate genes was assessed based on convergent genomic and genotype-phenotype correlation data. Identification of balanced chromosomal rearrangement breakpoints and interpretation in the context of their genomic background of structural and copy number variants led us to conclude that the infertility due to oligoasthenozoospermia and oligozoospermia is most likely associated with a position effect on YIPF5 and SPATC1L, respectively. In a third proband with intellectual disability and recurrent miscarriage, disruption of CAMK2B causing autosomal dominant, intellectual developmental disorder 54 and increased meiotic segregation during gametogenesis of a der(22) are responsible for the reported phenotype. Our data further support the existence of loci at 5q23 and 21q22.3 for these spermatogenesis defects and highlight the importance of the naturally occurring balanced chromosomal rearrangements for assessment of the pathogenic mechanisms. Furthermore, we show comorbidities due to the same balanced chromosomal rearrangement caused by different pathogenic mechanisms.
Topics: Female; Humans; Male; Abortion, Habitual; Chromosome Aberrations; Chromosomes, Human, Pair 22; Intellectual Disability; Oligospermia; Translocation, Genetic; Vesicular Transport Proteins
PubMed: 37625567
DOI: 10.1016/j.gene.2023.147737 -
European Review For Medical and... Aug 2023The World Health Organization (WHO) defines infertility as a person failing to achieve a pregnancy after 12 months or more of regular unprotected sexual intercourse....
OBJECTIVE
The World Health Organization (WHO) defines infertility as a person failing to achieve a pregnancy after 12 months or more of regular unprotected sexual intercourse. Infertility includes female infertility and male infertility. The aim of this paper is to study the etiology of infertility and related influencing factors in men of reproductive age in Jinan.
PATIENTS AND METHODS
In this study, 172 male infertile patients who attended the Department of Assisted Reproduction of Shandong Provincial Maternal and Child Health Hospital in Shandong, China and the Infertility Clinic of Jinan Central Hospital in Shandong, China from August 2021 to April 2022 are selected as the study population (infertility group). A convenience sampling method is used to select 257 men from couples attending the Obstetrics Department of Qilu Hospital in Shandong, China, the Obstetrics Department of the Second Hospital of Shandong University in Shandong, China, and the Obstetrics Department of Maternal and Child Health Hospital in Shandong, China from October 2021 to February 2022 as the study subjects (control group). A self-designed questionnaire is used to conduct the survey, which includes basic personal information, lifestyle information, marital and family-related information, and one-way and multi-way logistic regression analyses are performed.
RESULTS
The average age of the case group and the control group are 34.03±5.13 years old and 33.61±8.18 years old; the average height is 175.80±5.91 cm and 176.78±5.25 cm; the average weight is 80.28±14.70 kg and 83.09±45.36 kg. The differences in age, height, and weight between the case group and the control group are not statistically significant by t-test. Moderate oligospermia is the predominant cause of infertility in men of reproductive age in Jinan. A multifactorial logistic regression analysis yields that academic qualifications (OR=2.518, 95% CI: 1.023 to 6.196), coffee consumption (OR=7.692, 95% CI: 1.623 to 36.460), living in a room that had been renovated within a period of time (OR=2.769, 95% CI: 1.104 to 6.949), stress level (OR=47.280, 95% CI: 23.656-94.494), quality of sexual life (OR=3.352, 95% CI: 1.331-8.442), and duration of couple separation (OR=3.851, 95% CI: 1.094-13.557) are the main risk factors for infertility in men of reproductive age in Jinan.
CONCLUSIONS
In this study, a total of 6 risk factors are screened for male infertility in Jinan in the reproductive age, including high academic qualifications, coffee consumption, living in a room that has finished renovation within 3 months, high stress, poor quality of sexual life, and long spousal separation. Three factors can be controlled, avoided, or reduced through personal actions; the factors are coffee consumption, living in a room that has finished renovation within 3 months, and high stress, all of which may reduce the level of male reproductive health.
Topics: Child; Pregnancy; Humans; Female; Male; Adult; Infant; Coffee; Infertility, Male; Reproduction; Infertility, Female; Sexual Behavior
PubMed: 37606119
DOI: 10.26355/eurrev_202308_33282 -
Journal of Human Reproductive Sciences 2023Scrotal arteriovenous malformation (AVM) is an unusual entity with its own important clinical implications. Described only as a few case reports in medical literature,...
Scrotal arteriovenous malformation (AVM) is an unusual entity with its own important clinical implications. Described only as a few case reports in medical literature, it not only can cause life-threatening haemorrhage because of its superficial location in the scrotum but also can result in infertility. We report the case of a 35-year-old man who had a progressively increasing scrotal swelling for almost 20 years and now presented for infertility workup. He had oligospermia on semen analysis with a normal testosterone level and no history of testicular infection or scrotal surgery. On scrotal sonography and computed tomography angiography, he was diagnosed to have bilateral scrotal AVMs which may have resulted in his oligospermia. Pre-operative embolisation and surgery was offered as a treatment option which the patient declined and was lost to follow-up. However, this case describes scrotal AVM as an important and possibly correctable cause of infertility. Usually diagnosed as scrotal lymphedema clinically, the case has been reported so that the clinician should be aware of this entity as a plausible cause of male infertility and the treatment could be refined and accelerated.
PubMed: 37547090
DOI: 10.4103/jhrs.jhrs_27_23 -
PloS One 2023Almost 40% of infertile men cases are classified as idiopathic when tested negative to the current diagnostic routine based on the screening of karyotype, Y chromosome...
Almost 40% of infertile men cases are classified as idiopathic when tested negative to the current diagnostic routine based on the screening of karyotype, Y chromosome microdeletions and CFTR mutations in men with azoospermia or oligozoospermia. Rare monogenic forms of infertility are not routinely evaluated. In this study we aim to investigate the unknown potential genetic causes in couples with pure male idiopathic infertility by applying variant prioritization to whole exome sequencing (WES) in a cohort of 99 idiopathic Italian patients. The ad-hoc manually curated gene library prioritizes genes already known to be associated with more common and rare syndromic and non-syndromic male infertility forms. Twelve monogenic cases (12.1%) were identified in the whole cohort of patients. Of these, three patients had variants related to mild androgen insensitivity syndrome, two in genes related to hypogonadotropic hypogonadism, and six in genes related to spermatogenic failure, while one patient is mutant in PKD1. These results suggest that NGS combined with our manually curated pipeline for variant prioritization and classification can uncover a considerable number of Mendelian causes of infertility even in a small cohort of patients.
Topics: Humans; Male; Exome; Infertility, Male; Azoospermia; Oligospermia; Mutation
PubMed: 37540677
DOI: 10.1371/journal.pone.0288336 -
Cureus Jun 2023Introduction The use of androgenic anabolic steroids (AAS) negatively affects male fertility by disrupting hormone release and reducing testosterone levels. Despite...
Introduction The use of androgenic anabolic steroids (AAS) negatively affects male fertility by disrupting hormone release and reducing testosterone levels. Despite this, many men using steroids are unaware of fertility-related consequences. We aimed to determine the factors associated with AAS resumption during fertility treatment, specifically focusing on the duration, age, and dosage of AAS use prior to treatment. Our study, the first of its kind, investigated risk factors for resuming AAS following fertility assessment. Methods We conducted a retrospective review of adult men diagnosed with infertility due to chronic AAS use between 2012 and 2022 at the University of Miami. The study included men with azoospermia or severe oligospermia who were instructed to stop using AAS. Excluded were those who underwent orchiectomy for benign or malignant conditions. We collected data on demographic characteristics, AAS route details, fertility treatments, and AAS resumption. We hypothesized that risk factors for restarting AAS would include duration of AAS use, type of AAS, pre-treatment testosterone levels, and increased age. Results We identified 94 men with infertility caused by AAS use. Among them, 31 (33.0%) resumed AAS therapy within eight months after cessation. The median age of men who restarted AAS was 40 years. Those who resumed AAS had used it for a longer duration prior to fertility assessment compared to those who did not (60 months vs. 17 months, respectively). However, we found no statistically significant differences in age, duration of AAS use, AAS administration details, or serum testosterone levels at the time of initial assessment. Conclusion In conclusion, most men seeking fertility assessment due to AAS abuse did not resume testosterone therapy. However, those who did restart AAS had a longer history of AAS use. Future high-quality prospective studies are needed to better understand the risk factors associated with resuming AAS in male infertility caused by anabolic steroids.
PubMed: 37519603
DOI: 10.7759/cureus.41134 -
Cureus Jun 2023Disorders of sperm production can be classified quantitatively as oligospermia (low sperm count) or azoospermia (no sperm during ejaculation). Numerous genes have been...
Disorders of sperm production can be classified quantitatively as oligospermia (low sperm count) or azoospermia (no sperm during ejaculation). Numerous genes have been implicated in spermatogenesis. We describe a case of two identical twins who presented with different reproductive capabilities. One brother was infertile due to azoospermia, and the other, although oligospermic, previously naturally fathered a child. They were found to have differential gene expression based on RNA sequencing analysis. In the man with azoospermia, we found elevated and gene expressions when compared with his brother, suggesting that the increased RNA expression of these genes could influence sperm production.
PubMed: 37492809
DOI: 10.7759/cureus.40847 -
Urologia Nov 2023Most genitourinary tract cancers have a negative impact on male fertility. Although testicular cancers have the worst impact, other tumors such as prostate, bladder, and... (Review)
Review
Most genitourinary tract cancers have a negative impact on male fertility. Although testicular cancers have the worst impact, other tumors such as prostate, bladder, and penis are diagnosed early and treated in relatively younger patients in which couple fertility can be an important concern. The purpose of this review is to highlight both the pathogenetic mechanisms of damage to male fertility in the context of the main urological cancers and the methods of preserving male fertility in an oncological setting, in light of the most recent scientific evidence. A systematic review of available literature was carried out on the main scientific search engines, such as PubMed, Clinicaltrials.Gov, and Google scholar. Three hundred twenty-five relevant articles on this subject were identified, 98 of which were selected being the most relevant to the purpose of this review. There is a strong evidence in literature that all of the genitourinary oncological therapies have a deep negative impact on male fertility: orchiectomy, partial orchiectomy, retroperitoneal lymphadenectomy (RPLND), radical cystectomy, prostatectomy, penectomy, as well as radiotherapy, chemotherapy, and hormonal androgen suppression. Preservation of fertility is possible and includes cryopreservation, hormonal manipulation with GnRH analogs before chemotherapy, androgen replacement. Germ cell auto transplantation is an intriguing strategy with future perspectives. Careful evaluation of male fertility must be a key point before treating genitourinary tumors, taking into account patients' age and couples' perspectives. Informed consent should provide adequate information to the patient about the current state of his fertility and about the balance between risks and benefits in oncological terms. Standard approaches to genitourinary tumors should include a multidisciplinary team with urologists, oncologists, radiotherapists, psycho-sexologists, andrologists, gynecologists, and reproductive endocrinologists.
Topics: Humans; Male; Fertility Preservation; Androgens; Infertility, Male; Testicular Neoplasms; Urologic Neoplasms
PubMed: 37491831
DOI: 10.1177/03915603221146147