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1.
Acta Biomed ; 92(5): e2021264, 2021 11 03.
Artigo em Inglês | MEDLINE | ID: mdl-34738579

RESUMO

BACKGROUND: inflammatory bowel diseases (IBD) are chronic disorders that affect the gastrointestinal tract but which also present extraintestinal manifestations. One of the problems related to IBD is the presence of both female and male infertility. AIM: determine the correlation between IBD and male and female infertility by analyzing the literature. MATERIAL AND METHODS: Studies carried out in the last twenty years have been selected through the pubmed search engine. Only studies were selected that in their conclusions showed a real correlation between IBD and infertility. RESULTS: the first cause of infertility in both sexes is related to the surgical interventions that patients have to face during the course of the disease, but there are also psychological causes or causes related to the use of drugs used for therapy. CONCLUSIONS: further studies are needed to understand what are the real mechanisms underlying infertility in subjects suffering from IBD.


Assuntos
Colite , Infertilidade Feminina , Infertilidade Masculina , Doenças Inflamatórias Intestinais , Ansiedade , Feminino , Humanos , Infertilidade Feminina/etiologia , Infertilidade Masculina/epidemiologia , Infertilidade Masculina/etiologia , Doenças Inflamatórias Intestinais/complicações , Masculino
2.
Am J Hum Genet ; 108(10): 1924-1945, 2021 10 07.
Artigo em Inglês | MEDLINE | ID: mdl-34626582

RESUMO

Klinefelter syndrome (KS), also known as 47, XXY, is characterized by a distinct set of physiological abnormalities, commonly including infertility. The molecular basis for Klinefelter-related infertility is still unclear, largely because of the cellular complexity of the testis and the intricate endocrine and paracrine signaling that regulates spermatogenesis. Here, we demonstrate an analysis framework for dissecting human testis pathology that uses comparative analysis of single-cell RNA-sequencing data from the biopsies of 12 human donors. By comparing donors from a range of ages and forms of infertility, we generate gene expression signatures that characterize normal testicular function and distinguish clinically distinct forms of male infertility. Unexpectedly, we identified a subpopulation of Sertoli cells within multiple individuals with KS that lack transcription from the XIST locus, and the consequence of this is increased X-linked gene expression compared to all other KS cell populations. By systematic assessment of known cell signaling pathways, we identify 72 pathways potentially active in testis, dozens of which appear upregulated in KS. Altogether our data support a model of pathogenic changes in interstitial cells cascading from loss of X inactivation in pubertal Sertoli cells and nominate dosage-sensitive factors secreted by Sertoli cells that may contribute to the process. Our findings demonstrate the value of comparative patient analysis in mapping genetic mechanisms of disease and identify an epigenetic phenomenon in KS Sertoli cells that may prove important for understanding causes of infertility and sex chromosome evolution.


Assuntos
Infertilidade Masculina/patologia , Síndrome de Klinefelter/complicações , Células Intersticiais do Testículo/patologia , Células de Sertoli/patologia , Análise de Célula Única/métodos , Testículo/patologia , Transcriptoma , Humanos , Infertilidade Masculina/etiologia , Infertilidade Masculina/metabolismo , Síndrome de Klinefelter/cirurgia , Células Intersticiais do Testículo/metabolismo , Masculino , RNA Longo não Codificante/genética , RNA Longo não Codificante/metabolismo , Células de Sertoli/metabolismo , Espermatogênese , Testículo/metabolismo , Inativação do Cromossomo X
3.
Urologiia ; (4): 73-78, 2021 09.
Artigo em Russo | MEDLINE | ID: mdl-34486278

RESUMO

INTRODUCTION: Varicocelectomy does not always lead to semen improvement and male fertility recovery. OBJECTIVES: Analysis of total progressive motile sperm count (TPMSC) predictive role in fertility recovery of subfertile man after varicocelectomy in combination with other predictors. MATERIALS AND METHODS: This prospective, open, multi-center study comprises 93 men from infertile couples with clinical varicocele who underwent microsurgical (inguinal or subinguinal) varicocelectomy. The changes in the standard semen analysis studied according to WHO 2010 Standards. We also evaluated spontaneous pregnancy rates. A discriminant analysis was carried out with step-by-step selection to identify reliable predictors of pregnancy after varicocelectomy. An increase in TPMSC by at least 12.5 million was considered as a good effect of varicocele repair (reference values for the number and progressive sperm motility according to WHO 2010: 39 million x 0.32 (32%) progressively motile). Patients were divided into 3 groups in regards of direction and degree of semen changes: group I included 48 patients with increase of TPMSC more or equal 12.5 million, group II comprised 20 patients with mild increase in TPMSC (0.1 - 12.5 million) and the III group comprised patients without any effect (TPMSC did not change, or became less than preoperative one) after varicocelectomy. The initial clinical characteristics of patients in the groups were compared. RESULTS: A significant effect was observed in 52% of cases (n=48), a mild favorable effect in 21% (n=20), and no effect in 27% (n=25). Spontaneous pregnancy rates (in 1 year after varicocele repair) were higher in patients of group I than that of groups II and III: 46%, 10% and 12%, respectively (p<0.05). The initial clinical characteristics between groups were comparable (p>0.05). In group I, the initial semen analysis parameters were significantly better than in group II and worse than in group III: the median and 25% -75% of the quartiles for TPMSC were 15 (1-44), 0 (0-8) and 54 (19-100) million, respectively (for all p<0.001). According to discriminant analysis significant predictors of pregnancy after varicocelectomy were an increase of TPMSC, male age and the initial total sperm motility. The predictive accuracy of the prognostic model with these three predictors was 84%, specificity was 87%, and sensitivity was 76%. CONCLUSIONS: The odds of fertility recovery after varicocelectomy has a U-shaped relationship: it is higher in patients with moderate semen quality impairment and it decreases in patients with initially low, and, conversely, high sperm count and motility. An increase in TPMSC by 12.5 million or more is a highly significant indicator of fertility recovery, because in this case the odds of spontaneous pregnancy can reach 50%. Predictors of fertility recovery after varicocelectomy are an increase of TPMSC, male age and the preoperative total motility.


Assuntos
Infertilidade Masculina , Varicocele , Feminino , Fertilidade , Humanos , Infertilidade Masculina/etiologia , Infertilidade Masculina/cirurgia , Masculino , Gravidez , Estudos Prospectivos , Análise do Sêmen , Contagem de Espermatozoides , Motilidade Espermática , Varicocele/cirurgia
4.
Ann Hematol ; 100(11): 2831-2841, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34536088

RESUMO

Since the survival rates of pediatric patients undergoing cancer treatment or hematopoietic stem cell transplantation (HSCT) have increased rapidly in recent decades, the late effects of treatment are now an important focus of patient care. Access to fertility preservation (FP) procedures as well as their financing differs considerably across Europe. However, some countries in Europe have recently changed the legal basis for financing FP procedures; therefore, the implementation of structures is mandatory to give patients access to FP. In this prospective cohort study, we characterized the process for establishing pediatric fertility counseling, including the development of an in-house standard procedure for recommendations regarding FP with potentially gonadotoxic treatment and valuating data from all FP counseling sessions. All data concerning patient characteristics (pubertal status, disease group) and recommendation of FP measures were prospectively collected and adoption of FP measures analyzed. Prior to the establishment of a structured process for FP in our pediatric oncology and stem cell transplantation center, there was no standardized FP counseling. We demonstrate that with the establishment of an inhouse standard procedure, it is possible to give consistent yet individualized FP counseling to approximately 90% of our patients facing gonadotoxic treatment, counseling over 200 patients between 2017 and 2019. This pilot study could potentially be adapted in other pediatric hematology, oncology, and stem cell transplantation centers to allow a more standardized handling of FP counseling for all patients facing gonadotoxic treatment.


Assuntos
Aconselhamento/métodos , Preservação da Fertilidade/métodos , Adolescente , Antineoplásicos/efeitos adversos , Criança , Pré-Escolar , Criopreservação , Feminino , Preservação da Fertilidade/economia , Preservação da Fertilidade/normas , Transplante de Células-Tronco Hematopoéticas , Humanos , Lactente , Infertilidade Feminina/induzido quimicamente , Infertilidade Feminina/etiologia , Infertilidade Feminina/prevenção & controle , Infertilidade Masculina/induzido quimicamente , Infertilidade Masculina/etiologia , Infertilidade Masculina/prevenção & controle , Masculino , Neoplasias/terapia , Recuperação de Oócitos , Ovário/transplante , Estudos Prospectivos , Puberdade , Lesões por Radiação/prevenção & controle , Radioterapia/efeitos adversos , Preservação do Sêmen , Condicionamento Pré-Transplante/efeitos adversos , Adulto Jovem
5.
Proc Natl Acad Sci U S A ; 118(39)2021 09 28.
Artigo em Inglês | MEDLINE | ID: mdl-34556579

RESUMO

Fertilization is the fundamental process that initiates the development of a new individual in all sexually reproducing species. Despite its importance, our understanding of the molecular players that govern mammalian sperm-egg interaction is incomplete, partly because many of the essential factors found in nonmammalian species do not have obvious mammalian homologs. We have recently identified the lymphocyte antigen-6 (Ly6)/urokinase-type plasminogen activator receptor (uPAR) protein Bouncer as an essential fertilization factor in zebrafish [S. Herberg, K. R. Gert, A. Schleiffer, A. Pauli, Science 361, 1029-1033 (2018)]. Here, we show that Bouncer's homolog in mammals, Sperm Acrosome Associated 4 (SPACA4), is also required for efficient fertilization in mice. In contrast to fish, in which Bouncer is expressed specifically in the egg, SPACA4 is expressed exclusively in the sperm. Male knockout mice are severely subfertile, and sperm lacking SPACA4 fail to fertilize wild-type eggs in vitro. Interestingly, removal of the zona pellucida rescues the fertilization defect of Spaca4-deficient sperm in vitro, indicating that SPACA4 is not required for the interaction of sperm and the oolemma but rather of sperm and the zona pellucida. Our work identifies SPACA4 as an important sperm protein necessary for zona pellucida penetration during mammalian fertilization.


Assuntos
Antígenos Ly/metabolismo , Fertilização , Infertilidade Masculina/patologia , Glicoproteínas de Membrana/fisiologia , Receptores de Ativador de Plasminogênio Tipo Uroquinase/metabolismo , Interações Espermatozoide-Óvulo , Acrossomo/metabolismo , Acrossomo/patologia , Animais , Antígenos Ly/genética , Feminino , Infertilidade Masculina/etiologia , Infertilidade Masculina/metabolismo , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Receptores de Ativador de Plasminogênio Tipo Uroquinase/genética , Zona Pelúcida/metabolismo , Zona Pelúcida/patologia
6.
Cells ; 10(9)2021 08 31.
Artigo em Inglês | MEDLINE | ID: mdl-34571916

RESUMO

The sperm flagellum is essential for the transport of the genetic material toward the oocyte and thus the transmission of the genetic information to the next generation. During the haploid phase of spermatogenesis, i.e., spermiogenesis, a morphological and molecular restructuring of the male germ cell, the round spermatid, takes place that includes the silencing and compaction of the nucleus, the formation of the acrosomal vesicle from the Golgi apparatus, the formation of the sperm tail, and, finally, the shedding of excessive cytoplasm. Sperm tail formation starts in the round spermatid stage when the pair of centrioles moves toward the posterior pole of the nucleus. The sperm tail, eventually, becomes located opposed to the acrosomal vesicle, which develops at the anterior pole of the nucleus. The centriole pair tightly attaches to the nucleus, forming a nuclear membrane indentation. An articular structure is formed around the centriole pair known as the connecting piece, situated in the neck region and linking the sperm head to the tail, also named the head-to-tail coupling apparatus or, in short, HTCA. Finally, the sperm tail grows out from the distal centriole that is now transformed into the basal body of the flagellum. However, a centriole pair is found in nearly all cells of the body. In somatic cells, it accumulates a large mass of proteins, the pericentriolar material (PCM), that together constitute the centrosome, which is the main microtubule-organizing center of the cell, essential not only for the structuring of the cytoskeleton and the overall cellular organization but also for mitotic spindle formation and chromosome segregation. However, in post-mitotic (G1 or G0) cells, the centrosome is transformed into the basal body. In this case, one of the centrioles, which is always the oldest or mother centriole, grows the axoneme of a cilium. Most cells of the body carry a single cilium known as the primary cilium that serves as an antenna sensing the cell's environment. Besides, specialized cells develop multiple motile cilia differing in substructure from the immotile primary cilia that are essential in moving fluids or cargos over the cellular surface. Impairment of cilia formation causes numerous severe syndromes that are collectively subsumed as ciliopathies. This comparative overview serves to illustrate the molecular mechanisms of basal body formation, their similarities, and dissimilarities, in somatic versus male germ cells, by discussing the involved proteins/genes and their expression, localization, and function. The review, thus, aimed to provide a deeper knowledge of the molecular players that is essential for the expansion of clinical diagnostics and treatment of male fertility disorders.


Assuntos
Corpos Basais/patologia , Centrossomo/patologia , Células Germinativas/patologia , Infertilidade Masculina/patologia , Humanos , Infertilidade Masculina/etiologia , Masculino , Espermatogênese
7.
Fertil Steril ; 116(5): 1266-1285, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34583840

RESUMO

The purpose of this American Society for Reproductive Medicine Practice Committee report is to provide clinicians with principles and strategies for the evaluation and treatment of couples with infertility associated with obesity. This revised document replaces the Practice Committee document titled "Obesity and reproduction: an educational bulletin" last published in 2015 (Fertil Steril 2015;104:1116-26).


Assuntos
Fertilidade , Infertilidade Feminina/etiologia , Infertilidade Masculina/etiologia , Obesidade/complicações , Aborto Espontâneo/etiologia , Índice de Massa Corporal , Endométrio/fisiopatologia , Feminino , Humanos , Infertilidade Feminina/diagnóstico , Infertilidade Feminina/fisiopatologia , Infertilidade Feminina/terapia , Infertilidade Masculina/diagnóstico , Infertilidade Masculina/fisiopatologia , Infertilidade Masculina/terapia , Masculino , Obesidade/diagnóstico , Obesidade/fisiopatologia , Obesidade/terapia , Ovário/fisiopatologia , Ovulação , Gravidez , Técnicas de Reprodução Assistida , Fatores de Risco , Resultado do Tratamento , Perda de Peso
8.
Front Immunol ; 12: 658432, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34367130

RESUMO

The physiological process of male reproduction relies on the orchestration of neuroendocrine, immune, and energy metabolism. Spermatogenesis is controlled by the hypothalamic-pituitary-testicular (HPT) axis, which modulates the production of gonadal steroid hormones in the testes. The immune cells and cytokines in testes provide a protective microenvironment for the development and maturation of germ cells. The metabolic cellular responses and processes in testes provide energy production and biosynthetic precursors to regulate germ cell development and control testicular immunity and inflammation. The metabolism of immune cells is crucial for both inflammatory and anti-inflammatory responses, which supposes to affect the spermatogenesis in testes. In this review, the role of immunometabolism in male reproduction will be highlighted. Obesity, metabolic dysfunction, such as type 2 diabetes mellitus, are well documented to impact male fertility; thus, their impacts on the immune cells distributed in testes will also be discussed. Finally, the potential significance of the medicine targeting the specific metabolic intermediates or immune metabolism checkpoints to improve male reproduction will also be reassessed.


Assuntos
Metabolismo Energético , Imunomodulação , Reprodução/fisiologia , Animais , Gerenciamento Clínico , Suscetibilidade a Doenças , Retroalimentação Fisiológica , Hormônios Esteroides Gonadais/metabolismo , Hormônio Liberador de Gonadotropina/metabolismo , Humanos , Sistema Hipotálamo-Hipofisário/imunologia , Sistema Hipotálamo-Hipofisário/metabolismo , Sistema Imunitário/imunologia , Sistema Imunitário/metabolismo , Infertilidade Masculina/etiologia , Infertilidade Masculina/metabolismo , Infertilidade Masculina/terapia , Masculino , Testículo/imunologia , Testículo/metabolismo
9.
Fertil Steril ; 116(3): 609-610, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34462094

RESUMO

Many medical and surgical treatments result in impaired male fertility. Sometimes impairments are permanent, while other times they may be reversible. Clinicians who treat urologic and nonurologic problems, as well as those of us who treat male and female infertility should understand what treatments affect which aspects of reproduction and what options for management are available. Conditions for which treatment may impair fertility range from benign prostatic hyperplasia to cancer to behavioral health issues. This month's Views and Reviews summarizes these conditions, the mechanisms of fertility impairment as well as preemptive and posttreatment approaches for management.


Assuntos
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/etiologia , Fertilidade/efeitos dos fármacos , Doença Iatrogênica , Infertilidade Masculina/etiologia , Complicações Pós-Operatórias/etiologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/fisiopatologia , Humanos , Infertilidade Masculina/induzido quimicamente , Infertilidade Masculina/fisiopatologia , Masculino , Complicações Pós-Operatórias/fisiopatologia , Fatores de Risco
10.
Fertil Steril ; 116(3): 625-629, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34462097

RESUMO

Iatrogenic causes of male infertility can include medications, chemotherapy, radiation, and surgery. In this review, we discuss commonly performed urologic cancer surgeries and nonurologic surgeries that harbor a high risk of iatrogenic infertility. These include radical prostatectomy, radical cystectomy, retroperitoneal lymph node dissection, pelvic colon surgery, and anterior spine surgery. In addition, we review the anatomy and surgical strategies that help to reduce the risks of infertility. With an increase in life expectancy and improvements in fertility preservation, it is important to properly counsel patients about the risks of infertility and provide options for fertility preservation before surgery.


Assuntos
Colectomia/efeitos adversos , Cistectomia/efeitos adversos , Doença Iatrogênica , Infertilidade Masculina/etiologia , Excisão de Linfonodo/efeitos adversos , Neoplasias/cirurgia , Procedimentos Ortopédicos/efeitos adversos , Prostatectomia/efeitos adversos , Azoospermia/etiologia , Azoospermia/fisiopatologia , Azoospermia/terapia , Ejaculação , Fertilidade , Preservação da Fertilidade , Humanos , Infertilidade Masculina/fisiopatologia , Infertilidade Masculina/terapia , Vértebras Lombares/cirurgia , Masculino , Fatores de Risco
11.
PLoS Pathog ; 17(8): e1009859, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34383852

RESUMO

Wolbachia is a group of intracellular symbiotic bacteria that widely infect arthropods and nematodes. Wolbachia infection can regulate host reproduction with the most common phenotype in insects being cytoplasmic incompatibility (CI), which results in embryonic lethality when uninfected eggs fertilized with sperms from infected males. This suggests that CI-induced defects are mainly in paternal side. However, whether Wolbachia-induced metabolic changes play a role in the mechanism of paternal-linked defects in embryonic development is not known. In the current study, we first use untargeted metabolomics method with LC-MS to explore how Wolbachia infection influences the metabolite profiling of the insect hosts. The untargeted metabolomics revealed 414 potential differential metabolites between Wolbachia-infected and uninfected 1-day-old (1d) male flies. Most of the differential metabolites were significantly up-regulated due to Wolbachia infection. Thirty-four metabolic pathways such as carbohydrate, lipid and amino acid, and vitamin and cofactor metabolism were affected by Wolbachia infection. Then, we applied targeted metabolomics analysis with GC-MS and showed that Wolbachia infection resulted in an increased energy expenditure of the host by regulating glycometabolism and fatty acid catabolism, which was compensated by increased food uptake. Furthermore, overexpressing two acyl-CoA catabolism related genes, Dbi (coding for diazepam-binding inhibitor) or Mcad (coding for medium-chain acyl-CoA dehydrogenase), ubiquitously or specially in testes caused significantly decreased paternal-effect egg hatch rate. Oxidative stress and abnormal mitochondria induced by Wolbachia infection disrupted the formation of sperm nebenkern. These findings provide new insights into mechanisms of Wolbachia-induced paternal defects from metabolic phenotypes.


Assuntos
Infecções Bacterianas/complicações , Drosophila melanogaster/metabolismo , Infertilidade Masculina/patologia , Metaboloma , Fenótipo , Reprodução , Wolbachia/fisiologia , Animais , Infecções Bacterianas/metabolismo , Infecções Bacterianas/microbiologia , Drosophila melanogaster/crescimento & desenvolvimento , Drosophila melanogaster/microbiologia , Feminino , Infertilidade Masculina/etiologia , Infertilidade Masculina/metabolismo , Masculino
12.
Sci Rep ; 11(1): 17053, 2021 08 23.
Artigo em Inglês | MEDLINE | ID: mdl-34426625

RESUMO

The exposure of adult fish to warm or high temperatures is known to impair reproduction, yet the long-term reproductive impacts for treatments at early life are not well clarified. This study aimed to evaluate the effects of warm temperature (WT) during juvenile stage on gonad maturation, gamete quality, and offspring thermotolerance in rainbow trout. While the comparison of basic reproductive parameters in WT females did not reveal any kind of impairment, many WT males showed an atrophied, undeveloped gonad, or a smaller testis with lower milt volume; sperm quality parameters in WT males and deformity rates in the respective progeny were also highly affected. However, despite of such negative effects, many of the remaining progeny presented better rates of survival and growth when exposed to the same conditions as those of parental fish (WT), suggesting that thermal stress in parr stage males elicited intergenerational thermotolerance after a single generation. The present results support that prolonged warming stress during early life stages can adversely affect key reproductive aspects, but contrastingly increase offspring performance at upper thermal ranges. These findings have implications on the capacity of fish to adapt and to cope with global warming.


Assuntos
Reprodução , Termotolerância , Truta/fisiologia , Animais , Feminino , Infertilidade Masculina/etiologia , Masculino , Testículo/crescimento & desenvolvimento , Truta/crescimento & desenvolvimento
13.
JAMA ; 326(1): 65-76, 2021 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-34228062

RESUMO

Importance: In the US, approximately 12.7% of reproductive age women seek treatment for infertility each year. This review summarizes current evidence regarding diagnosis and treatment of infertility. Observations: Infertility is defined as the failure to achieve pregnancy after 12 months of regular unprotected sexual intercourse. Approximately 85% of infertile couples have an identifiable cause. The most common causes of infertility are ovulatory dysfunction, male factor infertility, and tubal disease. The remaining 15% of infertile couples have "unexplained infertility." Lifestyle and environmental factors, such as smoking and obesity, can adversely affect fertility. Ovulatory disorders account for approximately 25% of infertility diagnoses; 70% of women with anovulation have polycystic ovary syndrome. Infertility can also be a marker of an underlying chronic disease associated with infertility. Clomiphene citrate, aromatase inhibitors such as letrozole, and gonadotropins are used to induce ovulation or for ovarian stimulation during in vitro fertilization (IVF) cycles. Adverse effects of gonadotropins include multiple pregnancy (up to 36% of cycles, depending on specific therapy) and ovarian hyperstimulation syndrome (1%-5% of cycles), consisting of ascites, electrolyte imbalance, and hypercoagulability. For individuals presenting with anovulation, ovulation induction with timed intercourse is often the appropriate initial treatment choice. For couples with unexplained infertility, endometriosis, or mild male factor infertility, an initial 3 to 4 cycles of ovarian stimulation may be pursued; IVF should be considered if these approaches do not result in pregnancy. Because female fecundity declines with age, this factor should guide decision-making. Immediate IVF may be considered as a first-line treatment strategy in women older than 38 to 40 years. IVF is also indicated in cases of severe male factor infertility or untreated bilateral tubal factor. Conclusions and Relevance: Approximately 1 in 8 women aged 15 to 49 years receive infertility services. Although success rates vary by age and diagnosis, accurate diagnosis and effective therapy along with shared decision-making can facilitate achievement of fertility goals in many couples treated for infertility.


Assuntos
Fármacos para a Fertilidade Feminina/uso terapêutico , Infertilidade Feminina , Infertilidade Masculina , Técnicas de Reprodução Assistida , Anormalidades Congênitas/etiologia , Feminino , Fármacos para a Fertilidade Feminina/efeitos adversos , Humanos , Infertilidade Feminina/tratamento farmacológico , Infertilidade Feminina/etiologia , Infertilidade Feminina/cirurgia , Infertilidade Masculina/diagnóstico , Infertilidade Masculina/etiologia , Estilo de Vida , Masculino , Indução da Ovulação , Técnicas de Reprodução Assistida/efeitos adversos , Análise do Sêmen
14.
Am J Hum Genet ; 108(8): 1466-1477, 2021 08 05.
Artigo em Inglês | MEDLINE | ID: mdl-34237282

RESUMO

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.


Assuntos
Astenozoospermia/complicações , Modelos Animais de Doenças , Dineínas/genética , Infertilidade Masculina/patologia , Mutação , Fenótipo , Espermatozoides/patologia , Alelos , Animais , Homozigoto , Humanos , Infertilidade Masculina/etiologia , Infertilidade Masculina/metabolismo , Masculino , Camundongos , Camundongos Knockout , Espermatozoides/metabolismo , Sequenciamento Completo do Exoma
15.
Reprod Domest Anim ; 56(10): 1267-1273, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34219309

RESUMO

The purpose of this paper was to analyse the aetiology and methods of diagnosing reproductive disorders in male dromedary camels. Male camel infertility manifests as one of three conditions: post-coital infertility (IG), inability to copulate (IC) and lack of sexual desire (LSD). IG is mainly a testicular disorder that is linked to a deteriorated seminogram, arrested spermatogenesis, Sertoli cell-only syndrome and testicular degeneration. For IG diagnosis, semen analysis, testicular biopsy and fine-needle aspiration are gold standards. Testicular ultrasonography was generally inefficient. High serum FSH was found in IG camels with oligo- and azoospermia, implying primary spermatogenesis defects. The testis-expressed protein (TEX101) and the epididymis-expressed protein (ECM1) are reliable biomarkers for distinguishing between obstructive and non-obstructive azoospermia. IC manifests in two forms: phimosis (PHI) and erectile dysfunction (ED). PHI is frequently linked to preputial and penile pathologies, as well as leucocytosis, neutrophilia and elevated nitric oxide metabolites. The majority of camels with ED have normal genital organs, and the condition is associated with an increase in cardiac troponin I. LSD is a rare disorder brought on by hormonal imbalances, high temperatures, stress and debilitating diseases. In conclusion, IG diagnosis necessitates semen analysis, testicular biopsy or fine-needle aspiration, and FSH testing, whereas IC diagnosis requires preputial and penile examinations. Diagnostic aids include serum and seminal biomarkers.


Assuntos
Camelus , Infertilidade Masculina/veterinária , Comportamento Sexual Animal , Animais , Azoospermia/veterinária , Biomarcadores , Disfunção Erétil/veterinária , Infertilidade Masculina/diagnóstico , Infertilidade Masculina/etiologia , Masculino , Fimose/veterinária , Testículo/patologia
16.
Urologiia ; (3): 122-128, 2021 06.
Artigo em Russo | MEDLINE | ID: mdl-34251112

RESUMO

Varicocele does not always lead to infertility; varicocelectomy does not always improve sperm. THE STUDY OBJECTIVE: to evaluate the quantitative correlation between varicocele and reproductive function with a large sample. DESIGN: a cross-sectional and case control study. MATERIALS AND METHODS: 3632 patients from infertile couples and 276 fertile males. The ejaculate was tested following WHO recommendations (2010), DNA fragmentation was evaluated with chromatin dispersion in agarose gel. RESULTS: we found weak correlation between varicocele degree (VD) and the spermogram parameters: -0.11 for concentration (<0.001), -0.08 for progressively motile sperm count (PMSC) in the ejaculate (<0.001), 0.11 for DNA fragmentation (<0.01), correlation with other parameters was insignificant (p>0.05). The clinical varicocele (V) prevalence in the fertile (F) and the infertile (I) males was the same: 27.2% (75/276) in the F, 31.4% (101/322) in the I1 with oligoasthenotertozoospermia (OAT) syndrome, 34.4% (43/125) in the I2 with OAT (p>0.05). In the general sample of the males from infertile couples V was found insignificantly more frequently in the I2 than in the I1 31.6% (426/1348) and 28.1% (641/2284), respectively (OR=1.13; p<0.05), because of degree 1 varicocele: 23.5% 20.2%, respectively (OR=1.16; p<0.05). Compared to the males without varicocele, median concentration is 8 mln/ml less in degree I,17mln/ml in degree II and 24 mln/ml in degree III (p<0.001); we found parallel increase in oligozoospermia rate: from 14% without varicocele to 27 and 26% in degree II and III (p<0.05-0.01). The PMSC in degree I varicocele is 10 mln less (-16% of the group without varicocele),in degree II 27 mln less (-44%), in degree III 23 mln less (-38%) (<0.001); the difference between the groups with degrees II and III is insignificant (p>0.05). The DNA fragmentation was significantly lower only in degree III (p<0.05). We found no difference in the sperm motility and morphology among the groups (p>0.05). CONCLUSION: In varicocele, the sperm count decreases but in of cases, concentration is within reference values; there is no difference between degree II and III. The sperm motility and morphology do not depend upon varicocele. The DNA fragmentation is increased in degree III varicocele. The relative risk of infertility in varicocele is low (OR is less or equal 1.13).


Assuntos
Infertilidade Masculina , Varicocele , Estudos de Casos e Controles , Estudos Transversais , Fragmentação do DNA , Humanos , Infertilidade Masculina/epidemiologia , Infertilidade Masculina/etiologia , Masculino , Contagem de Espermatozoides , Motilidade Espermática , Espermatozoides , Varicocele/epidemiologia
17.
Sci Rep ; 11(1): 13655, 2021 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-34211075

RESUMO

Female and male infertility have been associated to Chlamydia trachomatis, Ureaplasma spp. and Mycoplasma hominis urogenital infections. However, evidence from large studies assessing their prevalence and putative associations in patients with infertility is still scarce. The study design was a cross-sectional study including 5464 patients with a recent diagnosis of couple's primary infertility and 404 healthy control individuals from Cordoba, Argentina. Overall, the prevalence of C. trachomatis, Ureaplasma spp. and M. hominis urogenital infection was significantly higher in patients than in control individuals (5.3%, 22.8% and 7.4% vs. 2.0%, 17.8% and 1.7%, respectively). C. trachomatis and M. hominis infections were significantly more prevalent in male patients whereas Ureaplasma spp. and M. hominis infections were more prevalent in female patients. Of clinical importance, C. trachomatis and Ureaplasma spp. infections were significantly higher in patients younger than 25 years. Moreover, Ureaplasma spp. and M. hominis infections were associated to each other in either female or male patients being reciprocal risk factors of their co-infection. Our data revealed that C. trachomatis, Ureaplasma spp. and M. hominis are prevalent uropathogens in patients with couple's primary infertility. These results highlight the importance of including the screening of urogenital infections in the diagnostic workup of infertility.


Assuntos
Infecções por Chlamydia/diagnóstico , Infertilidade Feminina/microbiologia , Infertilidade Masculina/microbiologia , Infecções por Mycoplasma/diagnóstico , Infecções por Ureaplasma/diagnóstico , Adulto , Infecções por Chlamydia/complicações , Chlamydia trachomatis/isolamento & purificação , Estudos Transversais , Feminino , Humanos , Infertilidade Feminina/etiologia , Infertilidade Masculina/etiologia , Masculino , Pessoa de Meia-Idade , Infecções por Mycoplasma/complicações , Mycoplasma hominis/isolamento & purificação , Ureaplasma/isolamento & purificação , Infecções por Ureaplasma/complicações
18.
Ecotoxicol Environ Saf ; 220: 112396, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-34098427

RESUMO

BACKGROUND: Exposure to residential greenness has been associated with benefits on certain reproductive health outcomes. However, its potential benefits on semen quality remain unknown. OBJECTIVES: To quantitatively explore the association between exposure to residential greenness and semen quality. METHODS: We investigated 9142 sperm donation volunteers who underwent 38,682 semen examinations at Guangdong provincial human sperm bank in China during 2016-2019. Exposure to residential greenness was assessed using mean daily Normalized Difference Vegetation Index (NDVI) at each subject's residential address with a 400 m buffer during 0-90 days before each semen collection. Multivariate linear mixed models and linear regression models were used to assess the association between exposure to residential greenness and semen quality. RESULTS: An interquartile range increase in exposure to residential greenness was significantly associated with a 0.034 (95% confidence interval [CI]: 0.005, 0.063) ml, 4.06 (95% CI: 0.76, 7.37) × 106, and 0.32% (95% CI: 0.22%, 0.41%) increase in semen volume, total sperm number, and normal forms, respectively; similar trends were observed across quartiles of exposure to residential greenness (all p-values for liner trend <0.05 except for semen volume). The association of greenness exposure with semen volume and total sperm number was stronger in subjects 18-25 years, while the association with normal forms was stronger in subjects 26 years or older. The association for sperm concentration, total sperm number, and normal forms were stronger in cool season, while the association for semen volume was stronger in warm season. CONCLUSION: We found that exposure to residential greenness was significantly associated with higher semen quality. Further studies are warranted to determine the causality of the association and its underlying mechanisms.


Assuntos
Meio Ambiente , Fertilidade , Análise do Sêmen , Contagem de Espermatozoides , Espermatozoides , Adolescente , Adulto , China , Ecologia , Saúde Ambiental , Exercício Físico , Humanos , Infertilidade Masculina/etiologia , Estudos Longitudinais , Masculino , Saúde Mental , Pessoa de Meia-Idade , Estudos Retrospectivos , Estações do Ano , Doadores de Tecidos , Voluntários , Adulto Jovem
19.
Afr J Reprod Health ; 25(1): 122-128, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34077118

RESUMO

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.


Assuntos
Astenozoospermia/complicações , Azoospermia/complicações , Transferência Embrionária , Infertilidade Masculina/etiologia , Oligospermia/complicações , Taxa de Gravidez , Injeções de Esperma Intracitoplásmicas/métodos , Adulto , Feminino , Humanos , Masculino , Gravidez , Estudos Retrospectivos , Injeções de Esperma Intracitoplásmicas/efeitos adversos
20.
Genes (Basel) ; 12(5)2021 05 08.
Artigo em Inglês | MEDLINE | ID: mdl-34066795

RESUMO

This article reviews the latest information about preserving reproductive potential that can offer enhanced prospects for future conception in the pediatric male population with cancer, whose fertility is threatened because of the gonadotoxic effects of chemotherapy and radiation. An estimated 400,000 children and adolescents aged 0-19 years will be diagnosed with cancer each year. Fertility is compromised in one-third of adult male survivors of childhood cancer. We present the latest approaches and techniques for fertility preservation, starting with fertility preservation counselling, a clinical practice guideline used around the world and finishing with recent advances in basic science and translational research. Improving strategies for the maturation of germ cells in vitro combined with new molecular techniques for gene editing could be the next scientific keystone to eradicate genetic diseases such as cancer related mutations in the offspring of cancer survivors.


Assuntos
Sobreviventes de Câncer , Preservação da Fertilidade/métodos , Infertilidade Masculina/terapia , Adolescente , Antineoplásicos/efeitos adversos , Criança , Humanos , Infertilidade Masculina/etiologia , Masculino , Radioterapia/efeitos adversos , Recuperação Espermática
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