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1.
Rev. med. Risaralda ; 28(1): 138-143, ene.-jun. 2022. tab
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1389150

ABSTRACT

Resumen Introducción: La presencia de bacterias en semen (bacteriospermia) es una condición patológica asociada con infertilidad y con prevalencia de hasta el 35%. Objetivo: Reportar el caso de un paciente con oligoastenozoospermia manejado en la consulta de infertilidad. Caso: Paciente masculino de 33 años de edad con historia de dificultad para la concepción, antecedente de orquiectomía por torsión testicular a los 16 años, infección por Chlamydia trachomatis a los 20 años. Examen físico normal, ecografía doppler testicular con varicocele izquierdo leve. Espermograma con oligoastenozoospermia y espermocultivo en agar sangre positivo para Streptococcus spp y agar chocolate para Streptococcus spp. Se inició manejo con ampicilina Sulbactam durante 14 días y control a los 3 meses con nuevo espermograma con mejoría marcada de la concentración y la movilidad progresiva espermática. Resultado: La pareja logro un embarazo exitoso con bebe vivo en casa. Conclusión: La colonización bacteriana del semen contribuye a alteraciones de la calidad seminal, por lo tanto, determinar la presencia de bacterias en las parejas infértiles podría ser de utilidad para el mejoramiento de los parámetros seminales y lograr un embarazo exitoso.


Abstract The presence of bacteria in semen -bacteriospermia- is a pathological condition associated with infertility, which presents a prevalence of up to 35%. We describe the successful management during infertility consultation of a patient suffering from oligoasthenozoospermia. A 33-year-old male patient with a history of difficulty conceiving, a history of orchiectomy due to testicular torsion at 16 years of age, and Chlamydia trachomatis infection at 20 years of age. The physical examination showed normal results, and testicular Doppler ultrasonography presented mild left varicocele. The semen analysis reported oligoasthenozoospermia, positive semen culture on blood agar for Streptococcus spp, and positive chocolate agar for Streptococcus spp. The treatment started with ampicillin-sulbactam administration for 14 days and a check-up after three months with a new semen analysis which showed an improved concentration and progressive sperm motility. Finally, the couple achieved a successful pregnancy. Bacterial colonization of semen contributes to seminal quality alterations; therefore, determining bacteria's presence in infertile couples could help improve seminal parameters and achieve a successful pregnancy.

2.
Rev. Assoc. Med. Bras. (1992) ; 68(2): 191-195, Feb. 2022. tab
Article in English | LILACS | ID: biblio-1365350

ABSTRACT

SUMMARY OBJECTIVE: Since the start of the COVID-19 pandemic, there has been interest in the impact of both SARS-CoV-2 infection and pandemic-induced social restrictions on male reproductive health. This study aimed to evaluate the spermiogram values of men who presented for infertility during the pandemic compared with the previous 2 years. METHODS: Patients who presented to a urology outpatient clinic for the first time due to infertility were included. The patients' age, semen volume, and spermiogram results were recorded. Based on the presentation date, the patients were divided into prepandemic group 1 (March 2018-February 2019), prepandemic group 2 (March 2019-February 2020), and pandemic group (March 2020-February 2021) for comparison. RESULTS: A total of 594 patients were included. There was no significant difference between the three groups in terms of the number of patients who presented for infertility (207, 190, and 197 patients, respectively; p=0.691). The mean age was 36.6±7.2 in the prepandemic group 1, 35.5±7.1 in the prepandemic group 2, and 33.1±6.3 in the pandemic group. Patients who presented during the pandemic were significantly younger (p<0.001). There were no differences between the groups in terms of semen volume (p=0.910) or rates of normospermia and pathological spermiogram findings (p=0.222). CONCLUSIONS: In the first year of the COVID-19 pandemic, there was no significant difference in the number of patients who presented for infertility or in their spermiogram results compared with 2018 and 2019. However, it is noteworthy that the patients were significantly younger during the pandemic than in the previous 2 years.


Subject(s)
Humans , Male , Adult , COVID-19 , Infertility , Pandemics , SARS-CoV-2
3.
Asian Journal of Andrology ; (6): 255-259, 2022.
Article in English | WPRIM | ID: wpr-928556

ABSTRACT

Asthenoteratozoospermia is one of the most severe types of qualitative sperm defects. Most cases are due to mutations in genes encoding the components of sperm flagella, which have an ultrastructure similar to that of motile cilia. Coiled-coil domain containing 103 (CCDC103) is an outer dynein arm assembly factor, and pathogenic variants of CCDC103 cause primary ciliary dyskinesia (PCD). However, whether CCDC103 pathogenic variants cause severe asthenoteratozoospermia has yet to be determined. Whole-exome sequencing (WES) was performed for two individuals with nonsyndromic asthenoteratozoospermia in a consanguineous family. A homozygous CCDC103 variant segregating recessively with an infertility phenotype was identified (ENST00000035776.2, c.461A>C, p.His154Pro). CCDC103 p.His154Pro was previously reported as a high prevalence mutation causing PCD, though the reproductive phenotype of these PCD individuals is unknown. Transmission electron microscopy (TEM) of affected individuals' spermatozoa showed that the mid-piece was severely damaged with disorganized dynein arms, similar to the abnormal ultrastructure of respiratory ciliary of PCD individuals with the same mutation. Thus, our findings expand the phenotype spectrum of CCDC103 p.His154Pro as a novel pathogenic gene for nonsyndromic asthenospermia.


Subject(s)
Asthenozoospermia/pathology , Dyneins/genetics , Homozygote , Humans , Male , Microtubule-Associated Proteins , Mutation , Mutation, Missense , Sperm Tail/metabolism
4.
Asian Journal of Andrology ; (6): 231-237, 2022.
Article in English | WPRIM | ID: wpr-928555

ABSTRACT

Acephalic spermatozoa syndrome (ASS) is one of the most severe spermatogenic failures of all infertility in men. The cognition of ASS has experienced a tortuous process. Over the past years, with the in-depth understanding of spermatogenesis and the emergence of new genetic research technologies, the unraveling of the genetic causes of spermatogenic failure has become highly active. From these advances, we established a genetic background and made significant progress in the discovery of the genetic causes of ASS. It is important to identify pathogenic genes and mutations in ASS to determine the biological reasons for the occurrence of the disease as well as provide genetic diagnosis and treatment strategies for patients with this syndrome. In this review, we enumerate various technological developments, which have made a positive contribution to the discovery of candidate genes for ASS from the past to the present. Simultaneously, we summarize the known genetic etiology of this phenotype and the clinical outcomes of treatments in the present. Furthermore, we propose perspectives for further study and application of genetic diagnosis and assisted reproductive treatment in the future.


Subject(s)
Humans , Infertility, Male/pathology , Male , Membrane Proteins/genetics , Mutation , Spermatogenesis/genetics , Spermatozoa/pathology
5.
Asian Journal of Andrology ; (6): 243-247, 2022.
Article in English | WPRIM | ID: wpr-928553

ABSTRACT

Thanks to tremendous advances in sequencing technologies and in particular to whole exome sequencing (WES), many genes have now been linked to severe sperm defects. A precise genetic diagnosis is obtained for a minority of patients and only for the most severe defects like azoospermia or macrozoospermia which is very often due to defects in the aurora kinase C (AURKC gene. Here, we studied a subject with a severe oligozoospermia and a phenotypic diagnosis of macrozoospermia. AURKC analysis did not reveal any deleterious variant. WES was then initiated which permitted to identify a homozygous loss of function variant in the zinc finger MYND-type containing 15 (ZMYND15 gene. ZMYND15 has been described to serve as a switch for haploid gene expression, and mice devoid of ZMYND15 were shown to be sterile due to nonobstructive azoospermia (NOA). In man, ZMYND15 has been associated with NOA and severe oligozoospermia. We confirm here that the presence of a bi-allelic ZMYND15 variant induces a severe oligozoospermia. In addition, we show that severe oligozoospermia can be associated macrozoospermia, and that a phenotypic misdiagnosis is possible, potentially delaying the genetic diagnosis. In conclusion, genetic defects in ZMYND15 can induce complete NOA or severe oligozoospermia associated with a very severe teratozoospermia. In our experience, severe oligozoospermia is often associated with severe teratozoospermia and can sometimes be misinterpreted as macrozoospermia or globozoospermia. In these instances, specific AURKC or dpy-19 like 2 (DPY19L2) diagnosis is usually negative and we recommend the direct use of a pan-genomic techniques such as WES.


Subject(s)
Animals , Azoospermia/genetics , Humans , Infertility, Male/genetics , Male , Membrane Proteins/genetics , Mice , Mutation , Oligospermia/genetics , Repressor Proteins/metabolism , Teratozoospermia/genetics
6.
Asian Journal of Andrology ; (6): 248-254, 2022.
Article in English | WPRIM | ID: wpr-928551

ABSTRACT

Apparently balanced chromosomal structural rearrangements are known to cause male infertility and account for approximately 1% of azoospermia or severe oligospermia. However, the underlying mechanisms of pathogenesis and etiologies are still largely unknown. Herein, we investigated apparently balanced interchromosomal structural rearrangements in six cases with azoospermia/severe oligospermia to comprehensively identify and delineate cryptic structural rearrangements and the related copy number variants. In addition, high read-depth genome sequencing (GS) (30-fold) was performed to investigate point mutations causative of male infertility. Mate-pair GS (4-fold) revealed additional structural rearrangements and/or copy number changes in 5 of 6 cases and detected a total of 48 rearrangements. Overall, the breakpoints caused truncations of 30 RefSeq genes, five of which were associated with spermatogenesis. Furthermore, the breakpoints disrupted 43 topological-associated domains. Direct disruptions or potential dysregulations of genes, which play potential roles in male germ cell development, apoptosis, and spermatogenesis, were found in all cases (n = 6). In addition, high read-depth GS detected dual molecular findings in case MI6, involving a complex rearrangement and two point mutations in the gene DNAH1. Overall, our study provided the molecular characteristics of apparently balanced interchromosomal structural rearrangements in patients with male infertility. We demonstrated the complexity of chromosomal structural rearrangements, potential gene disruptions/dysregulation and single-gene mutations could be the contributing mechanisms underlie male infertility.


Subject(s)
Azoospermia/genetics , Chromosome Aberrations , Humans , Infertility, Male/genetics , Male , Oligospermia/genetics , Translocation, Genetic
7.
Asian Journal of Andrology ; (6): 186-190, 2022.
Article in English | WPRIM | ID: wpr-928536

ABSTRACT

Nonobstructive azoospermia (NOA) is a common cause of infertility and is defined as the complete absence of sperm in ejaculation due to defective spermatogenesis. The aim of this study was to identify the genetic etiology of NOA in an infertile male from a Chinese consanguineous family. A homozygous missense variant of the membrane-bound O-acyltransferase domain-containing 1 (MBOAT1) gene (c.770C>T, p.Thr257Met) was found by whole-exome sequencing (WES). Bioinformatic analysis also showed that this variant was a pathogenic variant and that the amino acid residue in MBOAT1 was highly conserved in mammals. Quantitative polymerase chain reaction (Q-PCR) analysis showed that the mRNA level of MBOAT1 in the patient was 22.0% lower than that in his father. Furthermore, we screened variants of MBOAT1 in a broader population and found an additional homozygous variant of the MBOAT1 gene in 123 infertile men. Our data identified homozygous variants of the MBOAT1 gene associated with male infertility. This study will provide new insights for researchers to understand the molecular mechanisms of male infertility and will help clinicians make accurate diagnoses.


Subject(s)
Acetyltransferases/genetics , Animals , Azoospermia/genetics , Cell Cycle Proteins/genetics , Humans , Infertility, Male/genetics , Male , Mammals , Membrane Proteins/genetics , Mutation
8.
Asian Journal of Andrology ; (6): 287-293, 2022.
Article in English | WPRIM | ID: wpr-928534

ABSTRACT

Intrauterine insemination with donor sperm (IUI-D) is an assisted reproductive technology (ART) offered to couples with definitive male infertility or risk of genetic disease transmission. Here, we sought to evaluate our practice in IUI-D and identify factors that influenced the success rate. We performed a retrospective, single-center study of all IUI-D procedures performed at Lille University Medical Center (Lille, France) between January 1, 2007, and December 31, 2017. Single and multivariate analyses with a mixed logistic model were used to identify factors associated with clinical pregnancies and live births. We included 322 couples and 1179 IUI-D procedures. The clinical pregnancy rate was 23.5%, and the live birth rate was 18.9% per IUI-D. In a multivariate analysis, the women's age was negatively associated with the live birth rate. The number of motile spermatozoa inseminated was the only factor associated with both clinical pregnancies and live births, with a chosen threshold of 0.75 million. The clinical pregnancy and live birth rates were, respectively, 17.3% and 13.0% below the number of motile spermatozoa inseminated threshold and 25.9% and 21.0% at or above the threshold (all P = 0.005). The number of motile spermatozoa inseminated was the only factor that significantly influenced both pregnancies and live-birth rates after IUI-D. Indeed, below a threshold of 0.75 million motile spermatozoa inseminated, those rates were significantly lower. Application of this number of motile spermatozoa inseminated threshold may help centers to allocate donations more effectively while maintaining reasonable waiting times for patients.


Subject(s)
Birth Rate , Female , Humans , Insemination , Insemination, Artificial , Male , Pregnancy , Pregnancy Rate , Retrospective Studies , Spermatozoa
9.
Asian Journal of Andrology ; (6): 266-272, 2022.
Article in English | WPRIM | ID: wpr-928525

ABSTRACT

Gene expression analyses suggest that more than 1000-2000 genes are expressed predominantly in mouse and human testes. Although functional analyses of hundreds of these genes have been performed, there are still many testis-enriched genes whose functions remain unexplored. Analyzing gene function using knockout (KO) mice is a powerful tool to discern if the gene of interest is essential for sperm formation, function, and male fertility in vivo. In this study, we generated KO mice for 12 testis-enriched genes, 1700057G04Rik, 4921539E11Rik, 4930558C23Rik, Cby2, Ldhal6b, Rasef, Slc25a2, Slc25a41, Smim8, Smim9, Tmem210, and Tomm20l, using the clustered regularly interspaced short palindromic repeats /CRISPR-associated protein 9 (CRISPR/Cas9) system. We designed two gRNAs for each gene to excise almost all the protein-coding regions to ensure that the deletions in these genes result in a null mutation. Mating tests of KO mice reveal that these 12 genes are not essential for male fertility, at least when individually ablated, and not together with other potentially compensatory paralogous genes. Our results could prevent other laboratories from expending duplicative effort generating KO mice, for which no apparent phenotype exists.


Subject(s)
Animals , CRISPR-Cas Systems/genetics , Fertility/genetics , Gene Editing , Humans , Male , Mice , Mice, Knockout , Testis/metabolism
10.
Asian Journal of Andrology ; (6): 56-61, 2022.
Article in English | WPRIM | ID: wpr-928512

ABSTRACT

Chlamydia trachomatis (CT) infection is the most prevalent sexually transmitted bacterial disease worldwide. However, unlike that in female infertility, the role of CT infection in male infertility remains controversial. The objective of this retrospective study was to explore the impacts of CT infection in the genital tract on sperm quality, sperm acrosin activity, antisperm antibody levels, and inflammation in a large cohort of infertile males in China. A total of 7154 semen samples were collected from infertile male subjects, 416 of whom were CT positive (CT+ group) and 6738 of whom were CT negative (CT- group), in our hospital between January 2016 and December 2018. Routine semen parameters (semen volume, pH, sperm concentration, viability, motility, morphology, etc.), granulocyte elastase levels, antisperm antibody levels, and sperm acrosin activity were compared between the CT+ and CT- groups. Our results showed that CT infection was significantly correlated with an abnormally low semen volume, as well as an increased white blood cell count and granulocyte elastase level (all P < 0.05) in the semen of infertile males; other routine semen parameters were not negatively impacted. The antisperm antibody level and sperm acrosin activity were not affected by CT infection. These findings suggested that CT infection might contribute to inflammation and hypospermia but does not impair sperm viability, motility morphology, and acrosin activity or generate antisperm antibodies in the infertile males of China.


Subject(s)
Chlamydia trachomatis , Female , Genitalia , Humans , Infertility, Male/epidemiology , Inflammation/epidemiology , Male , Retrospective Studies , Semen , Spermatozoa
11.
Asian Journal of Andrology ; (6): 40-44, 2022.
Article in English | WPRIM | ID: wpr-928507

ABSTRACT

Semen analysis has long been used to evaluate male fertility. Recently, several sperm function tests have been developed. Of those, the sperm DNA fragmentation index (DFI), which describes the status of the sperm DNA, is thought to be a suitable parameter for evaluating male fertility. However, there have been no large-scale studies on the sperm DFI of Japanese men. Therefore, we investigated the feasibility of using an in-house flow cytometry-based sperm DFI analysis based on the sperm DNA fragmentation test of sperm chromatin structure assay (SCSA) to assess male fertility in Japan. This study enrolled 743 infertile and 20 fertile Japanese men. To evaluate reproducibility, inter- and intraobserver precision was analyzed. A receiver operating characteristic curve analysis was used to set a cutoff value for the sperm DFI to identify men who could father children by timed intercourse or intrauterine insemination. The variability of the sperm DFI among fertile volunteers was determined. The relationship between semen parameters and the sperm DFI was assessed by Spearman's rho test. A precision analysis revealed good reproducibility of the sperm DFI. The cutoff value of sperm DNA fragmentation in infertile men was 24.0%. Semen volume had no relationship with the sperm DFI. Sperm concentration, sperm motility, total motile sperm count, and percentage of normal-shaped sperm were significantly and negatively correlated with the sperm DFI. The median sperm DFI was smaller in fertile volunteers (7.7%) than that in infertile men (19.4%). Sperm DNA fragmentation analysis can be used to assess sperm functions that cannot be evaluated by ordinary semen analysis.


Subject(s)
Child , Chromatin , DNA Fragmentation , Flow Cytometry , Humans , Infertility, Male/genetics , Japan , Male , Reproducibility of Results , Sperm Motility , Spermatozoa
12.
Int. j. morphol ; 40(2)2022.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1385629

ABSTRACT

RESUMEN: La reciente pandemia de la COVID-19 ha sacudido a la sociedad teniendo una importante repercusión en el campo de la salud y de la investigación. Dada su relevancia, se han llevado a cabo estudios sobre los efectos del SARS-CoV-2 en la fisiología humana. En concreto, sobre la posible presencia y transmisión del virus a través del sistema reproductor masculino y su posible efecto en el éxito reproductivo. Conocer si la presencia del virus altera los órganos responsables del desarrollo y maduración de las células de la serie espermatogénica podría revelarnos su implicación en la calidad seminal. Por ello, nos planteamos esta revisión, con el fin de analizar las principales evidencias científicas sobre los efectos del SARS-CoV-2 en la histofisiología del sistema reproductor masculino y sobre la capacidad fecundante de los espermatozoides.


SUMMARY: The recent COVID-19 pandemic has shaken up society, having a significant impact on the field of health and research. Given its relevance, studies have been performed on the effects of SARS-CoV-2 on human physiology. In particular, the possible presence and transmission of the virus through the male reproductive system could affect reproductive success. Knowing if the presence of the virus disrupts the organs responsible for the development and maturation of the cell lines involved in spermatogenesis could reveal its implications in sperm quality. For that reason, we proposed this review, in order to analyze the main scientific evidence on the effects of SARS-CoV-2 on the histophysiology of the male reproductive system and sperm fertilizing capacity.

13.
Article in Chinese | WPRIM | ID: wpr-940845

ABSTRACT

Oligozoospermia and asthenospermia are common causes of clinical male infertility. The number of patients increases year by year and shows a younger trend. Its etiology is complex, the mechanism and unclear pathogenesis and rely on empirical therapy. Therefore, it is necessary for exploring the pathogenesis and developing corresponding drugs to establish reasonable animal models. By comparing different animal model making methods, this paper provides ideas for constructing a more standardized animal model of oligoasthenospermia. At the moment, a lot of molding methods for oligoasthenospermia are available. Combined with the animal experimental articles of oligoasthenospermia in recent years, this study described the modeling with adenine, ornidazole, tripterygium glycoside, hydrocortisone, cyclophosphamide, busulfan, paclitaxel, heat stress, ionizing radiation, high-fat diet, and gene knockout, respectively, and compared the modeling methods in terms of the time, indexes, animal line, and model evaluation. Thereby, the advantages and disadvantages of different models of oligoasthenospermia were summarized, and finds that the existing animal models of oligoasthenospermia still have many shortcomings that need to be further improved. The selection, standardization and innovation of animal models need to be solved urgently, and the coincidence between animal models and clinical patients' traditional Chinese medicine syndromes is not coincident. In view of the existing problems, we should further explore how to build a modeling method in line with clinical characteristics and syndrome types, select the compound model method of integrated traditional Chinese and Western medicine, copy the model closer to the law of disease development and in line with traditional Chinese medicine syndrome, and provide animal experimental support for exploring the mechanism of disease, developing characteristic drugs and guiding clinical medication.

14.
Rev. Eugenio Espejo ; 15(1): 30-42, 20210102.
Article in Spanish | LILACS | ID: biblio-1145485

ABSTRACT

Teniendo en cuenta que la infertilidad en parejas constituye un problema de Salud Pública en Cuba y ante la necesidad de determinar sus principales causas en parejas infértiles atendidas en consulta municipal de infertilidad Policlínico Guillermo Tejas Silva de la ciudad de Las Tunas. Se realizó un estudio descriptivo de corte transversal desde septiembre de 2017 a mayo del 2018, con un universo de 88 parejas, los datos fueron obtenidos de las historias clínicas. Las principa les causas de infertilidad femenina encontradas fueron los trastornos ovulatorios seguido por el factor tubárico, mientras que en la masculina las testiculares. Predominaron las edades de 29-35 años en mujeres y >35 años en hombres. Según la historia obstétrica anterior prevalecieron las gestaciones previas y abortos espontáneos. La mayoría de las parejas fueron a consulta por una infertilidad secundaria, sin embargo, prevaleció la causa mixta (50%), con una duración invo- luntaria de 4 a 6 años (40,91%). Los hallazgos encontrados en este estudio coinciden de forma general con la literatura científica; pero resultan significativos para contribuir a la solución de los problemas relacionados con la infertilidad en parejas de este municipio tunero


Infertility in couples constitutes a Public Health problem in Cuba. It is evident the need to deter- mine its main causes in infertile couples treated at the municipal infertility consultation at Guillermo Tejas Silva Polyclinic Hospital in the city of Las Tunas. A descriptive cross-sectional study was conducted from September 2017 to May 2018, with a universe of 88 couples, the data were obtained from medical records. The main causes of female infertility found were ovulatory disorders followed by the tubal factor, while in the male, there were testicular ones. The ages of 29-35 years in women and> 35 years in men predominated. According to the previous obstetric history, previous pregnancies and spontaneous abortions prevailed. Most of the couples were consulted for secondary infertility, however, the mixed cause prevailed (50%), with an involun- tary duration of 4 to 6 years (40.91%). The findings coincided with the scientific literature; but they are significant to contribute to the solution of problems related to infertility in couples in this municipality of Las Tunas.


Subject(s)
Humans , Male , Female , Adult , Women , Infertility , Men , Family Characteristics , Public Health , Causality
15.
Asian Journal of Andrology ; (6): 456-461, 2021.
Article in English | WPRIM | ID: wpr-888458

ABSTRACT

Substances of abuse (SoA), as well as smoking and alcohol consumption, are well known for their impact on male fertility status, erectile function, and ejaculation. We assessed SoA consumption habits in a cohort of men seeking medical attention for uro-andrological purposes. Data from 7447 men seeking medical attention for the first time for uro-andrological purposes were analyzed. A complete medical and sexual history was collected for each patient. Smoking, alcohol, and SoA consumption were investigated. Descriptive statistics was used to describe the whole cohort. The primary motivations for their evaluation were lower urinary tract symptoms (LUTS), erectile dysfunction (ED), and infertility in 1912 (25.7%), 2944 (39.5%), and 2591 (34.8%) men, respectively. Previous use of SoA was reported by 378 (5.1%) men, and 190 (2.6%) individuals were current users. Patients seeking medical attention for infertility were more frequently current SoA users (107; 4.1%) than men with ED (66; 2.2%) and LUTS (17; 0.9%) (both P < 0.001). Current users of SoA were younger than those with past or no SoA history (P < 0.001). Current SoA users were more frequently smokers (P < 0.001) and alcohol consumers (P < 0.001) than those with a previous history or those who had never tried SoA. In conclusion, approximately 3% of men seeking medical attention for uro-andrological purposes were current SoA consumers. Infertile men reported a higher use of SoA than those with ED or LUTS. Current SoA users were younger and more frequently concomitant smokers and alcohol consumers compared to those who did or had never used SoA.

16.
Asian Journal of Andrology ; (6): 510-515, 2021.
Article in English | WPRIM | ID: wpr-888453

ABSTRACT

There are many unknown genetic factors that lead to infertility in nonobstructive azoospermia men. Here, we performed whole-exome sequencing in blood samples obtained from 40 azoospermia patients with meiotic arrest and found a novel c.151_154del (p.D51fs) frame-shift mutation in exon 3 of the testis expressed 11 (TEX11) gene in one patient. Sanger sequencing analysis of the patient and 288 fertile men was performed to validate the mutation. Immunohistochemical analysis showed TEX11 expression in late-pachytene spermatocytes and in round spermatids in fertile human testes. In contrast, testes of the patient with TEX11 mutation underwent meiotic arrest and lacked TEX11 expression. Western blotting of human embryonic kidney (HEK293) cells transfected with a vector for the p.D51fs TEX11 variant detected no TEX11 expression. In conclusion, we identified a novel frame-shift mutation in the TEX11 gene in an azoospermia patient, emphasizing that this gene should be included in genetic screening panels for the clinical evaluation of azoospermia patients.

17.
Asian Journal of Andrology ; (6): 501-509, 2021.
Article in English | WPRIM | ID: wpr-888449

ABSTRACT

Testicular volume (TV) is considered a good clinical marker of hormonal and spermatogenic function. Accurate reference values for TV measures in infertile and fertile men are lacking. We aimed to assess references values for TV in white-European infertile men and fertile controls. We analyzed clinical and laboratory data from 1940 (95.0%) infertile men and 102 (5.0%) fertile controls. Groups were matched by age using propensity score weighting. TV was assessed using a Prader orchidometer (PO). Circulating hormones and semen parameters were investigated in every male. Descriptive statistics, Spearman's correlation, and logistic regression models tested potential associations between PO-estimated TV values and clinical variables. Receiver operating characteristic (ROC) curves were used to find TV value cutoffs for oligoasthenoteratozoospermia (OAT) and nonobstructive azoospermia (NOA) status in infertile men. The median testicular volume was smaller in infertile than that of fertile men (15.0 ml vs 22.5 ml; P < 0.001). TV positively correlated with total testosterone, sperm concentration, and progressive sperm motility (all P ≤ 0.001) in infertile men. At multivariable logistic regression analysis, infertile status (P < 0.001) and the presence of left varicocele (P < 0.001) were associated with TV < 15 ml. Testicular volume thresholds of 15 ml and 12 ml had a good predictive ability for detecting OAT and NOA status, respectively. In conclusion, infertile men have smaller testicular volume than fertile controls. TV positively correlated with total testosterone, sperm concentration, and progressive motility in infertile men, which was not the case in the age-matched fertile counterparts.

18.
Asian Journal of Andrology ; (6): 441-449, 2021.
Article in English | WPRIM | ID: wpr-888431

ABSTRACT

Infertility affects about 15% of the world's population. In 40%-50% of infertile couples, a male factor underlies the problem, but in about 50% of these cases, the etiology of male infertility remains unexplained. Some clinical data show that lifestyle interventions may contribute to male reproductive health. Cessation of unhealthy habits is suggested for preserving male fertility; there is growing evidence that most preexisting comorbidities, such as obesity and metabolic syndrome, are highly likely to have an impact on male fertility. The analysis of genetic polymorphisms implicated in metabolic activity represents one of the most exciting areas in the study of genetic causes of male infertility. Although these polymorphisms are not directly connected with male infertility, they may have a role in specific conditions associated with it, that is, metabolic disorders and oxidative stress pathway genes that are potentially associated with an increased risk of male infertility due to DNA and cell membrane damage. Some studies have examined the impact of individual genetic differences and gene-diet interactions on male infertility, but their results have not been synthesized. We review the current research to identify genetic variants that could be tested to improve the chances of conceiving spontaneously through personalized diet and/or oral vitamin and mineral supplementation, by examining the science of genetic modifiers of dietary factors that affect nutritional status and male fertility.

19.
Frontiers of Medicine ; (4): 302-312, 2021.
Article in English | WPRIM | ID: wpr-880973

ABSTRACT

Cullin-RING E3 ubiquitin ligase (CRL)-4 is a member of the large CRL family in eukaryotes. It plays important roles in a wide range of cellular processes, organismal development, and physiological and pathological conditions. DDB1- and CUL4-associated factor 8 (DCAF8) is a WD40 repeat-containing protein, which serves as a substrate receptor for CRL4. The physiological role of DCAF8 is unknown. In this study, we constructed Dcaf8 knockout mice. Homozygous mice were viable with no noticeable abnormalities. However, the fertility of Dcaf8-deficient male mice was markedly impaired, consistent with the high expression of DCAF8 in adult mouse testis. Sperm movement characteristics, including progressive motility, path velocity, progressive velocity, and track speed, were significantly lower in Dcaf8 knockout mice than in wild-type (WT) mice. However, the total motility was similar between WT and Dcaf8 knockout sperm. More than 40% of spermatids in Dcaf8 knockout mice showed pronounced morphological abnormalities with typical bent head malformation. The acrosome and nucleus of Dcaf8 knockout sperm looked similar to those of WT sperm. In vitro tests showed that the fertilization rate of Dcaf8 knockout mice was significantly reduced. The results demonstrated that DCAF8 plays a critical role in spermatogenesis, and DCAF8 is a key component of CRL4 function in the reproductive system.


Subject(s)
Animals , Cullin Proteins/genetics , DNA-Binding Proteins/genetics , Factor VIII , Male , Mice , Mice, Knockout , Spermatogenesis/genetics , Ubiquitin-Protein Ligases
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