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1.
Am J Hum Genet ; 108(8): 1466-1477, 2021 08 05.
Artículo en Inglés | MEDLINE | ID: mdl-34237282

RESUMEN

Multiple morphological abnormalities of the sperm flagella (MMAF)-induced asthenoteratozoospermia is a common cause of male infertility. Previous studies have identified several MMAF-associated genes, highlighting the condition's genetic heterogeneity. To further define the genetic causes underlying MMAF, we performed whole-exome sequencing in a cohort of 643 Chinese MMAF-affected men. Bi-allelic DNAH10 variants were identified in five individuals with MMAF from four unrelated families. These variants were either rare or absent in public population genome databases and were predicted to be deleterious by multiple bioinformatics tools. Morphological and ultrastructural analyses of the spermatozoa obtained from men harboring bi-allelic DNAH10 variants revealed striking flagellar defects with the absence of inner dynein arms (IDAs). DNAH10 encodes an axonemal IDA heavy chain component that is predominantly expressed in the testes. Immunostaining analysis indicated that DNAH10 localized to the entire sperm flagellum of control spermatozoa. In contrast, spermatozoa from the men harboring bi-allelic DNAH10 variants exhibited an absence or markedly reduced staining intensity of DNAH10 and other IDA components, including DNAH2 and DNAH6. Furthermore, the phenotypes were recapitulated in mouse models lacking Dnah10 or expressing a disease-associated variant, confirming the involvement of DNAH10 in human MMAF. Altogether, our findings in humans and mice demonstrate that DNAH10 is essential for sperm flagellar assembly and that deleterious bi-allelic DNAH10 variants can cause male infertility with MMAF. These findings will provide guidance for genetic counseling and insights into the diagnosis of MMAF-associated asthenoteratozoospermia.


Asunto(s)
Astenozoospermia/complicaciones , Modelos Animales de Enfermedad , Dineínas/genética , Infertilidad Masculina/patología , Mutación , Fenotipo , Espermatozoides/patología , Alelos , Animales , Homocigoto , Humanos , Infertilidad Masculina/etiología , Infertilidad Masculina/metabolismo , Masculino , Ratones , Ratones Noqueados , Espermatozoides/metabolismo , Secuenciación del Exoma
2.
Am J Hum Genet ; 105(1): 198-212, 2019 07 03.
Artículo en Inglés | MEDLINE | ID: mdl-31178125

RESUMEN

Motile cilia and sperm flagella share an evolutionarily conserved axonemal structure. Their structural and/or functional defects are associated with primary ciliary dyskinesia (PCD), a genetic disease characterized by chronic respiratory-tract infections and in which most males are infertile due to asthenozoospermia. Among the well-characterized axonemal protein complexes, the outer dynein arms (ODAs), through ATPase activity of their heavy chains (HCs), play a major role for cilia and flagella beating. However, the contribution of the different HCs (γ-type: DNAH5 and DNAH8 and ß-type: DNAH9, DNAH11, and DNAH17) in ODAs from both organelles is unknown. By analyzing five male individuals who consulted for isolated infertility and displayed a loss of ODAs in their sperm cells but not in their respiratory cells, we identified bi-allelic mutations in DNAH17. The isolated infertility phenotype prompted us to compare the protein composition of ODAs in the sperm and ciliary axonemes from control individuals. We show that DNAH17 and DNAH8, but not DNAH5, DNAH9, or DNAH11, colocalize with α-tubulin along the sperm axoneme, whereas the reverse picture is observed in respiratory cilia, thus explaining the phenotype restricted to sperm cells. We also demonstrate the loss of function associated with DNAH17 mutations in two unrelated individuals by performing immunoblot and immunofluorescence analyses on sperm cells; these analyses indicated the absence of DNAH17 and DNAH8, whereas DNAH2 and DNALI, two inner dynein arm components, were present. Overall, this study demonstrates that mutations in DNAH17 are responsible for isolated male infertility and provides information regarding ODA composition in human spermatozoa.


Asunto(s)
Astenozoospermia/complicaciones , Dineínas Axonemales/genética , Infertilidad Masculina/etiología , Mutación , Espermatozoides/patología , Adulto , Humanos , Infertilidad Masculina/metabolismo , Infertilidad Masculina/patología , Masculino , Linaje , Fenotipo , Espermatozoides/metabolismo
3.
Reprod Biol Endocrinol ; 20(1): 41, 2022 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-35232447

RESUMEN

BACKGROUND: Multiple morphological abnormalities of the sperm flagella (MMAF) is a subtype of severe asthenoteratozoospermia with poorly understood genetic etiology. SPAG6 is a core axonemal component that plays a critical role in the formation of cilia and sperm flagella. Previous studies have reported that mutations in SPAG6 cause primary ciliary dyskinesia (PCD), but the association between SPAG6 gene variants and the MMAF phenotype has not yet been described. METHODS: We performed whole-exome sequencing (WES) in two unrelated Han Chinese men with MMAF. Sanger sequencing was used to validate the candidate variants. Routine semen analysis was carried out according to the WHO guidelines (5th Edition). Sperm morphology was assessed using modified Papanicolaou staining. Scanning and transmission electron microscopy (S/TEM) was performed to observe the ultrastructural defects of the sperm flagella. Western blot analysis and immunofluorescence (IF) of spermatozoa were performed to examine the expression of SPAG6 protein. Assisted fertilization with intracytoplasmic sperm injection (ICSI) was applied. RESULTS: Two homozygous SPAG6 variants were identified by WES and Sanger validation in two patients with MMAF phenotype (F1 II-1: c.308C > A, p. A103D; F2 II-1: c. 585delA, p. K196Sfs*6). Semen analysis showed progressive rates of less than 1%, and most of the spermatozoa presented MMAF by Papanicolaou staining. TEM revealed that the overall axonemal ultrastructure was disrupted and primarily presented an abnormal "9 + 0" configuration. No other PCD-related symptoms were found on physical examination and medical consultations, as well as lung CT screening. The level of SPAG6 protein was significantly decreased in the spermatozoa, and IF analysis revealed that SPAG6 staining was extremely weak and discontinuous in the sperm flagella of the two patients. Notably, F1 II-1 and his wife conceived successfully after undergoing ICSI. CONCLUSIONS: Our research provides new evidence for a potential correlation between SPAG6 variants and the MMAF phenotype.


Asunto(s)
Astenozoospermia/genética , Proteínas de Microtúbulos/genética , Teratozoospermia/genética , Adulto , Astenozoospermia/complicaciones , Astenozoospermia/patología , China , Consanguinidad , Análisis Mutacional de ADN/métodos , Homocigoto , Humanos , Infertilidad Masculina/etiología , Infertilidad Masculina/genética , Masculino , Mutación , Linaje , Fenotipo , Cola del Espermatozoide/patología , Cola del Espermatozoide/ultraestructura , Espermatozoides/anomalías , Espermatozoides/ultraestructura , Teratozoospermia/complicaciones , Teratozoospermia/patología , Secuenciación del Exoma
4.
Afr J Reprod Health ; 25(1): 122-128, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34077118

RESUMEN

This study evaluated pregnancy results after fresh and frozen embryo transfer in males with infertility due to non-obstructive azoospermia and oligoasthenoteratozoospermia. In this retrospective study, a total of 801 embryo transfer cycles were followed up, including 423 fresh embryo transfers and 378 frozen embryo transfers in which intracytoplasmic sperm injection (ICSI) was performed because of male infertility. This study included females aged 28-38 years without uterine, endometrial, ovarian and tubal abnormalities and with regular menstrual cycles (n=801), and males aged 28-38 years with non-obstructive azoospermia and oligoasthenoteratozoospermia. Descriptive statistical methods and the independent t-test were used in the comparison of two groups with normal distribution, the Mann-Whitney U test was used in the comparison of two groups without normal distribution, and the Chi-square test was used to compare categorical variables. There were no statistically significant differences between the fresh embryo transfer group and frozen embryo transfer group in terms of rates of pregnancy, biochemical pregnancy, clinical pregnancy, live birth rate, and abortion rate. There was no difference between fresh embryo transfer and frozen embryo transfer in terms of pregnancy results in couples with non-obstructive azoospermia and oligoasthenoteratozoospermia as male infertility factor.


Asunto(s)
Astenozoospermia/complicaciones , Azoospermia/complicaciones , Transferencia de Embrión , Infertilidad Masculina/etiología , Oligospermia/complicaciones , Índice de Embarazo , Inyecciones de Esperma Intracitoplasmáticas/métodos , Adulto , Femenino , Humanos , Masculino , Embarazo , Estudios Retrospectivos , Inyecciones de Esperma Intracitoplasmáticas/efectos adversos
5.
Clin Genet ; 98(4): 396-401, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32681648

RESUMEN

Asthenozoospermia is a common cause of male infertility associated with the reduced motility and/or abnormal morphology of spermatozoa, although its etiology remains incompletely understood. Multiple morphological abnormalities of the sperm flagella (MMAF) is one of the main causes of asthenozoospermia. However, the MMAF-associated genes identified to date cannot explain all the human MMAF cases. Herein, a loss-of-function mutation of DNAH8 was identified in an asthenozoospermia patient with MMAF. Moreover, the negative effect of this mutation on DNAH8 expression was confirmed by immunofluorescence staining and western blotting. Remarkably, it is the first time that DNAH8 is suggested to be associated with human MMAF. Our findings provide strong evidence that a loss-of-function mutation in DNAH8 can cause male infertility with MMAF and that DNAH8 is essential for sperm flagellar formation.


Asunto(s)
Anomalías Múltiples/genética , Astenozoospermia/genética , Dineínas/genética , Infertilidad Masculina/genética , Anomalías Múltiples/patología , Adulto , Astenozoospermia/complicaciones , Astenozoospermia/patología , Exoma/genética , Homocigoto , Humanos , Infertilidad Masculina/patología , Mutación con Pérdida de Función/genética , Masculino , Análisis de Semen , Motilidad Espermática/genética , Cola del Espermatozoide/metabolismo , Cola del Espermatozoide/patología , Secuenciación del Exoma
6.
Andrologia ; 50(3)2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-29315686

RESUMEN

Since sperm require high energy levels to perform their specialised function, it is vital that essential nutrients are available for spermatozoa when they develop, capacitate and acquire motility. However, they are vulnerable to a lack of energy and excess amounts of reactive oxygen species, which can impair sperm function, lead to immotility, acrosomal reaction impairment, DNA fragmentation and cell death. This monocentric, randomised, double-blind, placebo-controlled trial investigated the effect of 6 months of supplementation with l-carnitine, acetyl-l-carnitine and other micronutrients on sperm quality in 104 subjects with oligo- and/or astheno- and/or teratozoospermia with or without varicocele. In 94 patients who completed the study, sperm concentration was significantly increased in supplemented patients compared to the placebo (p = .0186). Total sperm count also increased significantly (p = .0117) in the supplemented group as compared to the placebo group. Both, progressive and total motility were higher in supplemented patients (p = .0088 and p = .0120, respectively). Although pregnancy rate was not an endpoint of the study, of the 12 pregnancies that occurred during the follow-up, 10 were reported in the supplementation group. In general, all these changes were more evident in varicocele patients. In conclusion, supplementation with metabolic and antioxidant compounds could be efficacious when included in strategies to improve fertility.


Asunto(s)
Antioxidantes/uso terapéutico , Astenozoospermia/tratamiento farmacológico , Varicocele/tratamiento farmacológico , Adolescente , Adulto , Antioxidantes/farmacología , Astenozoospermia/complicaciones , Suplementos Dietéticos , Método Doble Ciego , Humanos , Masculino , Persona de Mediana Edad , Motilidad Espermática/efectos de los fármacos , Espermatozoides/efectos de los fármacos , Resultado del Tratamiento , Varicocele/complicaciones , Adulto Joven
7.
Andrologia ; 49(3)2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-27362525

RESUMEN

Asthenozoospermia is an important cause of male infertility. The mutations in sperm mitochondrial DNA (mtDNA) result in either functionless or malfunctioning some proteins, subsequently affecting sperm motility leading to asthenozoospermia. The purpose of this study was to investigate sperm mtDNA 4,977-bp deletion in infertile men with low sperm motility/immotile spermatozoa compared to healthy subjects with high sperm motility. Semen samples of 256 asthenozoospermic infertiles and 200 controls from northern Iran were collected. After extraction of spermatozoa total DNA, Gap-polymerase chain reaction (Gap-PCR) was performed. The deletion was observed in 85.93% of patients with asthenozoospermia compared with 14% in controls [OR = 37.5397, 95% confidence interval = 12.937-108.9276, p < .0001]. It is concluded that there is a strong association between sperm mtDNA 4,977-bp deletion and asthenozoospermia-induced infertility in the population examined. Large-scale mtDNA deletions in spermatozoa may induce bioenergetic disorders. Nevertheless, to validate our results broader research may be needed.


Asunto(s)
Astenozoospermia/genética , ADN Mitocondrial/genética , Eliminación de Secuencia , Motilidad Espermática/genética , Espermatozoides/patología , Astenozoospermia/complicaciones , Secuencia de Bases/genética , Estudios de Casos y Controles , Humanos , Irán , Masculino , Reacción en Cadena de la Polimerasa
8.
Zhonghua Nan Ke Xue ; 23(5): 473-476, 2017 May.
Artículo en Zh | MEDLINE | ID: mdl-29717843

RESUMEN

Oligoasthenozoospermia, teratozoospermia or low sperm motility is the main cause of male infertility. Low sperm motility can be induced by abnormalities of the sperm tail structure and sperm function. The outer dense fiber protein 2 (ODF2) is a protein fiber maintaining cytoskeleton, as a major component of the mammalian sperm tail and centrosome, and its abnormality is closely related to asthenospermia. Recent studies indicate that ODF2 includes many proteins of the same name and homologous splices located in the sperm centrosomes and spindles of cleaved-embryos, necessary for animal ciliogenesis and associated with sperm capacitation. The features of ODF2 indicate that it is not a single-structural protein. This paper reviews the known functions of ODF2, paving a ground for further studies of the relationship between the ODF2 protein and fertilization.


Asunto(s)
Proteínas de Choque Térmico/fisiología , Espermatozoides/fisiología , Animales , Astenozoospermia/complicaciones , Azoospermia/complicaciones , Centrosoma/química , Citoesqueleto/química , Humanos , Infertilidad Masculina/etiología , Masculino , Motilidad Espermática/fisiología , Cola del Espermatozoide
9.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 42(10): 1228-1231, 2017 Oct 28.
Artículo en Zh | MEDLINE | ID: mdl-29093258

RESUMEN

To investigate the clinic value of microsurgical shunt for the treatment of varicocele combined with asthenspermia, the clinical data and therapeutic method for 3 patients, who conducted the microscope spermatic vein high ligation combined with superficial epigastric vein flow, were retrospectively analyzed. No postoperative complications were found, and the original symptoms and signs were disappeared. All patients were conducted scrotal ultrasound and semen routine after 3 months, and all indexes, including maximum internal diameter of the cord vein (erect position), sperm density, sperm survival rate, sperm deformity rate and sperm forward movement rate, were gradually improved. Consequently, high ligation of spermatic vein combined with vascular bypass surgery under the microscope can block the countercurrent venous blood and establish a new return channel to the testis. Meanwhile, it can also protect the testicular artery and lymph-vessel. It is worth to be spread for the treatment of varicocele combined with asthenospermia.


Asunto(s)
Astenozoospermia/cirugía , Microcirugia , Cordón Espermático/irrigación sanguínea , Varicocele/cirugía , Venas/cirugía , Anastomosis Quirúrgica/métodos , Astenozoospermia/complicaciones , Humanos , Ligadura , Masculino , Estudios Retrospectivos , Testículo/irrigación sanguínea , Varicocele/complicaciones
10.
Andrologia ; 48(2): 137-42, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25906828

RESUMEN

This study aimed to assess the relation of seminal cyclooxygenase COX-1, COX-2 with oxidative stress in infertile oligoasthenoteratozoospermic (OAT) men with varicocele (Vx). In all, 128 men were allocated into fertile men, fertile men with Vx, infertile OAT men without Vx and infertile OAT men with Vx. They were subjected to history taking, clinical examination and semen analysis. Also, seminal COX-1, COX-2, malondialdehyde (MDA) and glutathione peroxidase (GPx) were estimated. Mean levels of seminal COX-1, COX-2 were over-expressed, the mean level of seminal MDA was significantly increased, and the mean level of seminal GPx was significantly decreased in infertile OAT men with Vx compared with other groups. Seminal COX-1 and COX-2 were over-expressed in cases with Vx grade III compared with Vx grades I, II cases and in cases with bilateral Vx compared with unilateral Vx. There was significant negative correlation between seminal COX-1 and COX-2 with sperm concentration, sperm motility, sperm normal morphology, seminal GPx and significant positive correlation with seminal MDA. It is concluded that seminal COX-1 and COX-2 are over-expressed in infertile OAT men with Vx compared with fertile men with/without and infertile OAT men without Vx being associated with oxidative stress, Vx grade and Vx laterality.


Asunto(s)
Astenozoospermia/enzimología , Infertilidad Masculina/enzimología , Oligospermia/enzimología , Estrés Oxidativo , Semen/enzimología , Varicocele/enzimología , Adulto , Astenozoospermia/complicaciones , Astenozoospermia/metabolismo , Estudios de Casos y Controles , Ciclooxigenasa 1/metabolismo , Ciclooxigenasa 2/metabolismo , Glutatión Peroxidasa/metabolismo , Humanos , Infertilidad Masculina/complicaciones , Infertilidad Masculina/metabolismo , Masculino , Malondialdehído/metabolismo , Oligospermia/complicaciones , Oligospermia/metabolismo , Varicocele/complicaciones , Varicocele/metabolismo , Adulto Joven
11.
Andrologia ; 46(2): 112-7, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23230969

RESUMEN

Much has been published about smoking and alcohol intake influencing male fertility, sperm parameters and reproductive outcome. However, there is no conclusive agreement about the effects of cigarette smoking and alcohol use on these outcomes and thus no generally accepted guidelines. The combined effect of cigarette smoking and alcohol intake, though, has not been rigorously investigated. Because alcohol consumption and smoking are often seen together, this study focuses on the effect of smoking and drinking habits separately and combined on semen parameters, such as volume, sperm count, motility and morphology, and on pregnancy outcome. These suggested toxic effects are studied in a group of subfertile, asthenozoospermic men (<10% motile spermatozoa), compared with a group of 'proven fertile', healthy men. The extreme asthenozoospermic group has especially been chosen because of the suspected effect, that is, oxidative stress, on sperm motility. In our study, we found that cigarette smoking and alcohol intake did not differ between the subfertile and fertile group. In conclusion, cigarette smoking and alcohol consumption do not appear to significantly affect sperm parameters, such as volume, sperm count, motility and morphology or pregnancy outcome in our study population.


Asunto(s)
Consumo de Bebidas Alcohólicas/efectos adversos , Infertilidad Masculina/etiología , Resultado del Embarazo , Fumar/efectos adversos , Adulto , Astenozoospermia/complicaciones , Femenino , Humanos , Masculino , Persona de Mediana Edad , Embarazo , Análisis de Semen , Motilidad Espermática
12.
J Obstet Gynaecol Res ; 40(1): 167-71, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24102694

RESUMEN

AIM: The aim of this study was to compare the semen parameters of diabetic husbands of infertile couples with those of non-diabetic husbands of proven fertility. MATERIAL AND METHODS: Assuming a 5% fall in DNA integrity of sperms would affect fertility, the required sample size calculated was 103, with 80% power and 5% level of significance. During the study period (January 2010 to May 2012), 52 husbands were found to have diabetes mellitus, by 2-h/post 75 g of glucose load (≥ 200 mg %). Glycosylated hemoglobin level in each case was found to be more than 6.5% (study group). During the same period, six couples with infertility conceived spontaneously while undergoing evaluations, 60 couples conceived following treatment of ovulatory disorders in wives and all had ongoing pregnancies (more than 12 weeks). Husbands of these 66 couples were found to be non-diabetic (control group). Conventional semen analysis (World Health Organization criteria), hypo-osmotic swelling test and DNA integrity test (Acridine Orange test) were done in all cases. Body mass index was measured in each case. RESULTS: There were no differences in the mean age and body mass index between the two groups but significant differences were found in the following parameters: volume of the ejaculate (P = 0.004); total cells per ejaculate (P = 0.01); percent motility (P = 0.0001); total motile cells per ejaculate (P = 0.0001); percent of rapid progressive motility (P = 0.0001); percent normal morphology (P = 0.02); percent hypo-osmotic swelling test (0.0001); and percent normal DNA integrity (P = 0.0001). CONCLUSION: Diabetes mellitus can affect spermatogenesis at various levels, which can cause male-factor infertility.


Asunto(s)
Complicaciones de la Diabetes , Infertilidad Masculina/complicaciones , Adulto , Astenozoospermia/sangre , Astenozoospermia/complicaciones , Complicaciones de la Diabetes/sangre , Hemoglobina Glucada/análisis , Humanos , Infertilidad Masculina/sangre , Masculino , Oligospermia/sangre , Oligospermia/complicaciones , Análisis de Semen
13.
Ceska Gynekol ; 79(1): 22-8, 2014 Jan.
Artículo en Checo | MEDLINE | ID: mdl-24635361

RESUMEN

OBJECTIVE: One of causes of male infertility is reduced sperm motility. It turns out that the reduced efficiency of the mitochondrial respiratory activity may play a role in the development of this disorder. The aim of our study was to comprehensively determine mitochondrial respiratory activity of sperm with normal and reduced motility. DESIGN: Prospective study. SETTING: Department of Histology and Embryology, Faculty of Medicine in Pilsen, Charles University in Prague; Department of Physiology, Faculty of Medicine in Pilsen, Charles University in Prague; Institute of Reproductive Medicine and Endocrinology, IVF Centers Prof. Zech, Plzen. METHODS: Ejaculates of 14 men were obtained from IVF Center Prof. Zech, Pilsen. According to the World Health Organization classification, samples were divided into normozoospermatic (n = 7) and asthenozoospermatic(n = 7) groups. Respiratory activity of sperm was measured on two-chamber oxygraph Oroboros. RESULTS: In asthenozoospermatic samples, significantly reduced activity of complex I (p = 0.007) and increased respiration after application of ATP-synthase inhibitor oligomycin (showing increased uncoupled oxidation and phosphorylation, p = 0.046) were found. Inhibition of complex I by rotenone showed that complex I contribution to the total capacity of oxidative phosphorylation of healthy sperm was relatively lower than it is typical for somatic cells. CONCLUSION: In our study, we measured mitochondrial respiratory activity of human sperm, permeabilized by digitonin, by high-resolution oxygraphy, which allows the determination of oxygen consumption from the smallest possible number of germ cells. The study results confirm reduced activity of complex I in asthenozoospermatics and suggest that increased leakage of protons from the mitochondrial matrix, which leads to reduced efficiency of phosphorylating process, could participate in the reduced sperm motility. Better characterization of male germ cells, either completely healthy or with affected motility, will help us to understand better the physiological process of fertilization and also to choose the most viable sperm for infertility treatment by methods of assisted reproduction.


Asunto(s)
Astenozoospermia/genética , Infertilidad Masculina/etiología , Mitocondrias/fisiología , Motilidad Espermática/genética , Espermatozoides/patología , Adulto , Astenozoospermia/complicaciones , Astenozoospermia/metabolismo , Humanos , Infertilidad Masculina/genética , Infertilidad Masculina/metabolismo , Masculino , Estudios Prospectivos , Espermatozoides/metabolismo
14.
Andrologia ; 45(5): 319-25, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22934719

RESUMEN

Varicocele is associated with venous reflux that may cause increased heat and interstitial pressure within the testes, with variable pathological effects on spermatogenesis. This study aimed to study the ultrastructural testicular changes in the seminiferous tubules of 20 infertile severe oligoasthenoteratozoospermia (OAT) men associated with varicocele and five patients with obstructive azoospermia without varicocele as controls. They were subjected to testicular biopsy which was evaluated by transmission electron microscopy. Ultrastructurally, the seminiferous epithelium in the testicular biopsies of infertile severe OAT men associated with varicocele was variably affected in the form of thickening of the peritubular connective tissue, vacuolation of Sertoli cell and germ cell cytoplasm, presence of degenerated and apoptotic cells among the germinal epithelium, altered spermatids and abnormal spermatozoa. It is concluded that varicocele in severe OAT men is associated with ultrastructural changes in the seminiferous tubule.


Asunto(s)
Astenozoospermia/patología , Oligospermia/patología , Túbulos Seminíferos/ultraestructura , Varicocele/patología , Adulto , Astenozoospermia/complicaciones , Humanos , Masculino , Microscopía Electrónica de Transmisión , Oligospermia/complicaciones , Túbulos Seminíferos/patología , Testículo/patología , Testículo/ultraestructura , Varicocele/complicaciones
15.
Zhonghua Nan Ke Xue ; 19(12): 1115-8, 2013 Dec.
Artículo en Zh | MEDLINE | ID: mdl-24432626

RESUMEN

OBJECTIVE: To observe the efficacy of the combination of Qilin Pills and levofloxacin in the treatment of asthenospermia accompanied with accessory sex gland infection. METHODS: We randomly assigned 80 asthenospermia patients with accessory sex gland infection to groups 1 and 2 of equal number, the former treated with Qilin Pills + levofloxacin, and the latter with levofloxacin only. Qilin Pills were administered at the dose of 6 g tid for 30 days, and levofloxacin at the dose of 0.5 g qd for 20 days. We obtained semen parameters, including the percentage of progressively motile sperm and peroxidase-positive white blood cell (WBC) count, before and after medication, and compared the clinical effects between the two groups. RESULTS: All the patients accomplished the clinical trial. The therapeutic effectiveness rates in improving progressive sperm motility were 60% in group 1 and 17.5% in group 2, with statistically significant differences between the two groups (P < 0.05). As for the peroxidase-positive WBC count in semen, the effectiveness rates were 87.5% and 82.5%, respectively, with no significant differences between the two groups (P > 0.05). CONCLUSION: For the treatment of asthenospermia accompanied with accessory sex gland infection, Qilin Pills combined with levofloxacin is evidently better than levofloxacin alone in improving sperm motility, and it has no obvious adverse effects.


Asunto(s)
Astenozoospermia/tratamiento farmacológico , Medicamentos Herbarios Chinos/uso terapéutico , Levofloxacino/uso terapéutico , Fitoterapia , Adulto , Astenozoospermia/complicaciones , Humanos , Infertilidad Masculina/tratamiento farmacológico , Masculino , Infecciones del Sistema Genital/tratamiento farmacológico , Resultado del Tratamiento , Adulto Joven
16.
Genes (Basel) ; 14(2)2023 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-36833310

RESUMEN

Infertility is a major health problem worldwide without an effective therapy or cure. It is estimated to affect 8-12% of couples in the reproductive age group, equally affecting both genders. There is no single cause of infertility, and its knowledge is still far from complete, with about 30% of infertile couples having no cause identified (named idiopathic infertility). Among male causes of infertility, asthenozoospermia (i.e., reduced sperm motility) is one of the most observed, being estimated that more than 20% of infertile men have this condition. In recent years, many researchers have focused on possible factors leading to asthenozoospermia, revealing the existence of many cellular and molecular players. So far, more than 4000 genes are thought to be involved in sperm production and as regulators of different aspects of sperm development, maturation, and function, and all can potentially cause male infertility if mutated. In this review, we aim to give a brief overview of the typical sperm flagellum morphology and compile some of the most relevant information regarding the genetic factors involved in male infertility, with a focus on sperm immotility and on genes related to sperm flagellum development, structure, or function.


Asunto(s)
Astenozoospermia , Infertilidad Masculina , Masculino , Humanos , Femenino , Cola del Espermatozoide , Astenozoospermia/complicaciones , Astenozoospermia/genética , Semen , Motilidad Espermática , Infertilidad Masculina/genética
17.
Cell Death Dis ; 14(2): 127, 2023 02 15.
Artículo en Inglés | MEDLINE | ID: mdl-36792588

RESUMEN

The axonemal dynein arms (outer (ODA) and inner dynein arms (IDAs)) are multiprotein structures organized by light, intermediate, light intermediate (LIC), and heavy chain proteins. They hydrolyze ATP to promote ciliary and flagellar movement. Till now, a variety of dynein protein deficiencies have been linked with asthenospermia (ASZ), highlighting the significance of these structures in human sperm motility. Herein, we detected bi-allelic DNALI1 mutations [c.663_666del (p.Glu221fs)], in an ASZ patient, which resulted in the complete loss of the DNALI1 in the patient's sperm. We identified loss of sperm DNAH1 and DNAH7 rather than DNAH10 in both DNALI1663_666del patient and Dnali1-/- mice, demonstrating that mammalian DNALI1 is a LIC protein of a partial IDA subspecies. More importantly, we revealed that DNALI1 loss contributed to asymmetries in the most fibrous sheath (FS) of the sperm flagellum in both species. Immunoprecipitation revealed that DNALI1 might interact with the cytoplasmic dynein complex proteins in the testes. Furthermore, DNALI1 loss severely disrupted the transport and assembly of the FS proteins, especially AKAP3 and AKAP4, during flagellogenesis. Hence, DNALI1 may possess a non-classical molecular function, whereby it regulates the cytoplasmic dynein complex that assembles the flagella. We conclude that a DNALI deficiency-induced IDAs injury and an asymmetric FS-driven tail rigid structure alteration may simultaneously cause flagellum immotility. Finally, intracytoplasmic sperm injection (ICSI) can effectively resolve patient infertility. Collectively, we demonstrate that DNALI1 is a newly causative gene for AZS in both humans and mice, which possesses multiple crucial roles in modulating flagellar assembly and motility.


Asunto(s)
Astenozoospermia , Infertilidad Masculina , Animales , Humanos , Masculino , Ratones , Proteínas de Anclaje a la Quinasa A/metabolismo , Astenozoospermia/genética , Astenozoospermia/complicaciones , Astenozoospermia/metabolismo , Dineínas Axonemales/genética , Dineínas Axonemales/metabolismo , Dineínas Citoplasmáticas/metabolismo , Dineínas/genética , Dineínas/metabolismo , Infertilidad Masculina/genética , Infertilidad Masculina/metabolismo , Mamíferos , Mutación , Proteínas/metabolismo , Semen/metabolismo , Motilidad Espermática/genética , Cola del Espermatozoide/metabolismo
18.
Pan Afr Med J ; 45: 177, 2023.
Artículo en Francés | MEDLINE | ID: mdl-37954441

RESUMEN

Introduction: in Lubumbashi, as in upscale areas where explorations of fertility are very clever, the spermogram remains the essential analysis in the diagnosis of male infertility. This is the cause of 40% of couple infertility. The spermogram is the first step in identifying seminal abnormalities. The objective of this study was to determine the epidemiological-clinical and seminal profile of the man consulting for the desire to procreate in Lubumbashi. Methods: this was a cross-sectional study. We received 202 subjects in Lubumbashi, whose spermogram was performed from August 1st, 2020 to July 31st, 2021. The semen parameters were studied and interpreted according to WHO standards (2010) with studies of factors associated with their disturbance. Bivariate and multivariate analyzes had been carried out. The statistical significance threshold was set at p < 0.05. Results: the epidemiological-clinical profile of the respondents was as follows: the most represented age group was 30 to 39 years; infertility was primary in 80.69% of cases; the duration of the desire for paternity was 2 years at most in 44.55% of cases. The sperm abnormalities found were: oligozoospermia (40.09%), azoospermia (11.38%), asthenozoospermia (18.31%) and teratozoospermia (10.39%). Oligozoospermia was significantly associated with varicocele (ORa = 10.9 [3.0-39.5]; p < 0.0001), genital infection (ORa =2.7 [1.0-7, 2]; p = 0.041) and obesity (ORa = 2.6 [1.0-7.9]; p = 0.020) while azoospermia was the cure for inguinal hernia (ORa = 4.2 [1.0-17.2]; p = 0.049) and malnutrition (ORa =6.0 [1.2-29.7]; p = 0.027). Asthenozoospermia was significantly associated with the age group of 40 to 49 years (ORa = 6.6 [1.2-37.4]; p = 0.034), tobacco (ORa =7.5 [2.7 -21.0]; p = 0.000), undernutrition (ORa = 7.7 [1.0-61.9]; p = 0.045) and overweight (ORa =3.8 [1.3-11, 5]; p=0.019). Teratozoospermia was significantly associated with smoking (ORa = 5.6 [1.8-17.7]; p = 0.003) and overweight (ORa =5.3 [1.2-23.3]; p = 0.027). Conclusion: more than half of the respondents had, of the three main fertility parameters, at least one that was disturbed. Sperm count was the most affected parameter. Alcohol, tobacco, genital infection and malnutrition were the most common risk factors for the abnormalities observed.


Asunto(s)
Astenozoospermia , Azoospermia , Infertilidad Masculina , Desnutrición , Oligospermia , Teratozoospermia , Masculino , Humanos , Adulto , Persona de Mediana Edad , Oligospermia/complicaciones , Azoospermia/complicaciones , Astenozoospermia/complicaciones , Sobrepeso/complicaciones , Teratozoospermia/complicaciones , Estudios Transversales , República Democrática del Congo/epidemiología , Semillas , Infertilidad Masculina/epidemiología , Infertilidad Masculina/etiología , Desnutrición/complicaciones
19.
Biomed Khim ; 68(3): 228-231, 2022 Jun.
Artículo en Ruso | MEDLINE | ID: mdl-35717587

RESUMEN

Although the relationship between the amount of vitamin B12 and the quality of sperm exists, but results are controversial and require several additional research. The objective of our study was to analyse the amount of vitamin B12 in the sperm samples from patients with chronic prostatitis and varicocele with accompanying asthenozoospermia, and to identify the relationship between the amount of vitamin B12 and asthenozoospermia. The research was carried out of men with chronic prostatitis and varicocele with accompanying asthenozoospermia and infertility at the age of 27±2 years. The material of the investigation was spermoplasm. A chemical microscopic examination of the ejaculate was carried out with a sperm analyzer and with the light microscopy. The amount of vitamin B12 in the spermoplasm was determined by the method of competitive ELISA. It was found that the level of vitamin B12 was 3.6 times lower in patients with chronic prostatitis III B and asthenozoospermia then in the control group. Among patients with varicocele of II and III grade and asthenozoospermia, the level of vitamin B12 was 4.4 times lower than in control group. A positive correlation relationship of average strength was revealed (r=0,683; p=0,001). Additionally, it was revealed that among patients with Chronic prostatitis III B and varicocele of II and III grades with accompanying asthenozoospermia, there was the positive correlation relationship of average strength (r=0,690; p=0,001) between the amount of vitamin B12 and sperm mobility. A decrease in vitamin B12 levels may serve as a marker of reproductive dysfunction in men.


Asunto(s)
Astenozoospermia , Prostatitis , Varicocele , Adulto , Astenozoospermia/complicaciones , Humanos , Masculino , Prostatitis/complicaciones , Motilidad Espermática , Varicocele/complicaciones , Vitamina B 12
20.
Reprod Sci ; 29(9): 2703-2705, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35606631

RESUMEN

PURPOSE: Studies pertaining to the effect of COVID-19 infection on male fertility are scarce. This case report describes a case of transient asthenozoospermia, absence of sperm motility, following a moderately severe COVID-19 infection. CASE: A couple presenting for infertility treatment due to low ovarian reserve presented for their second intrauterine insemination (IUI). Their first IUI was performed 1 month earlier when the semen parameters were normal. A couple of weeks before the second IUI, the unvaccinated 48-year-old male partner contracted COVID-19 and was admitted to the hospital for several days. He received IV Remdesivir and continuous oxygen by nasal cannula. His hospitalization did not require intubation or intensive care unit admission. He was discharged after 12 days of hospitalization without home oxygen treatment. On the day of the second IUI, the semen analysis showed a normal sperm count with 0% motility. Three months following his COVID-19 diagnosis, a repeat semen analysis showed restored normal parameters with more than 40% motility. CONCLUSION: This aim of this report is to increase awareness that moderate COVID-19 requiring hospitalization could affect, though temporarily, sperm motility and should be considered in the differential diagnosis when male infertility is encountered.


Asunto(s)
Astenozoospermia , COVID-19 , Astenozoospermia/complicaciones , Astenozoospermia/diagnóstico , COVID-19/complicaciones , Prueba de COVID-19 , Humanos , Masculino , Persona de Mediana Edad , Oxígeno , Semen , Recuento de Espermatozoides , Motilidad Espermática , Espermatozoides
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