A globozoospermia é uma condição que causa infertilidade masculina, por ser um problema nos espermatozoides. Ela se caracteriza pela presença, no sêmen, da maioria dos espermatozoides com a cabeça redonda, que não possuem uma estrutura chamada acrossomo, têm a membrana do núcleo anormal e defeitos na parte do meio. Esses espermatozoides, por não terem o acrossomo, não conseguem penetrar a zona pelúcida. Por isso, as falhas na fertilização são frequentes, mesmo com procedimentos como a injeção intracitoplasmática de espermatozoides.
Introdução
O que você precisa saber de cara
A globozoospermia é uma condição que causa infertilidade masculina, por ser um problema nos espermatozoides. Ela se caracteriza pela presença, no sêmen, da maioria dos espermatozoides com a cabeça redonda, que não possuem uma estrutura chamada acrossomo, têm a membrana do núcleo anormal e defeitos na parte do meio. Esses espermatozoides, por não terem o acrossomo, não conseguem penetrar a zona pelúcida. Por isso, as falhas na fertilização são frequentes, mesmo com procedimentos como a injeção intracitoplasmática de espermatozoides.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 3 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
9 genes identificados com associação a esta condição.
Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for CatSper complex targeting and trafficking into the quadrilinear nanodomains. Targets the preassembled CatSper complexes to elongating flagella, where it links the channel-carrying vesicles and motor proteins
Cell projection, cilium, flagellum membrane
Spermatogenic failure 68
An autosomal recessive male infertility disorder characterized by globozoospermia. Affected individuals have a normal sperm count, but spermatozoa are round-headed and lack the acrosome. In addition to pure globozoospermia, some patients have a mixture of acrosomeless spermatozoa and spermatozoa with small or detached acrosomes, which is defined as acrosomal hypoplasia.
Filament-forming cytoskeletal GTPase (Probable). Pro-apoptotic protein involved in LGR5-positive intestinal stem cell and Paneth cell expansion in the intestines, via its interaction with XIAP (By similarity). May also play a role in the regulation of cell fate in the intestine (By similarity). Positive regulator of apoptosis involved in hematopoietic stem cell homeostasis; via its interaction with XIAP (By similarity). Negative regulator of repair and hair follicle regeneration in response to i
CytoplasmCell projection, cilium, flagellumCytoplasmic vesicle, secretory vesicleCell projection, axonCell projection, dendritePerikaryonSynapseMitochondrionNucleus
Spermatogenic failure 99
An autosomal recessive, male infertility disorder characterized by asthenoteratozoospermia with markedly reduced sperm progressive motility, and abnormal sperm morphology. Patient sperm exhibit a thin midpiece, absence of the annulus, and disorganization of the mitochondrial sheath.
Essential for spermiogenesis and male fertility (By similarity). Involved in the formation of sperm acrosome during spermatogenesis
Golgi apparatusCytoplasmic vesicle, secretory vesicle, acrosome
Spermatogenic failure 6
An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon.
May regulate MCM3AP phosphorylation through phosphatase recruitment (By similarity). May act as a negative regulator of ABCB1 expression and function through the dephosphorylation of ABCB1 by TFPI2/PPP2R3C complex (PubMed:24333728). May play a role in the activation-induced cell death of B-cells (By similarity)
NucleusCytoplasm
Myoectodermal gonadal dysgenesis syndrome
An autosomal recessive disorder characterized by 46,XY complete gonadal dysgenesis and extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and cone dystrophy, anal atresia, omphalocele, sensorineural hearing loss, dry and scaly skin, skeletal abnormalities, renal agenesis and neuromotor delay.
Probable adapter protein that bind to and organize the subcellular localization of a variety of membrane proteins containing some PDZ recognition sequence. Involved in the clustering of various receptors, possibly by acting at the receptor internalization level. Plays a role in synaptic plasticity by regulating the trafficking and internalization of AMPA receptors. May be regulated upon PRKCA activation. May regulate ASIC1/ASIC3 channel. Regulates actin polymerization by inhibiting the actin-nuc
Cytoplasm, perinuclear regionMembranePostsynaptic densitySynapse, synaptosomeCytoplasm, cytoskeleton
May be involved in spermatogenesis
Spermatogenic failure 69
An autosomal recessive male infertility disorder characterized by low sperm concentrations, globozoospermia, and absence of sperm acrosome.
Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins Required during spermatogenesis for sperm head elongation and acrosome formation (PubMed:21397063, PubMed:21397064). Also plays a role in acrosome attachment to the nuclear envelope (By similarity)
Nucleus inner membrane
Spermatogenic failure 9
An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon.
Plays a role in acrosome compaction and sperm morphogenesis (PubMed:21911476). Is implicated in sperm-oocyte interaction during fertilization (By similarity)
Cytoplasmic vesicle, secretory vesicle, acrosomeCytoplasmic vesicle, secretory vesicle, acrosome membraneSecreted
Spermatogenic failure 66
An autosomal recessive male infertility disorder characterized by globozoospermia. Affected individuals have a normal sperm count, but spermatozoa are round-headed and lack the acrosome. In addition to pure globozoospermia, some patients have a mixture of acrosomeless spermatozoa and spermatozoa with small or detached acrosomes, which is defined as acrosomal hypoplasia.
Plays a role in intracellular protein trafficking and degradation (PubMed:11707463, PubMed:14570915, PubMed:15358775). May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels (By similarity). May also regulate the intracellular trafficking of the ADR1B receptor (PubMed:15358775). May play a role in autophagy (By similarity). Together with MARCHF2 mediates the ubiquitination and lysosomal degradation of CFTR (PubMed:23818989). Ove
CytoplasmGolgi apparatus membraneGolgi apparatus, trans-Golgi network membraneSynapsePostsynaptic densityCell projection, dendrite
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
64 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
6 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Globozoospermia
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
ELAPOR1 mediated vesicle traffic is required for acrosome biogenesis and male fertility in mice.
Spermiogenesis is the post-meiotic differentiation and morphological change of the haploid spermatids. Acrosome biogenesis is one of the key events of spermiogenesis, which generates a specialized membranous organelle crucial for shaping the balanced morphology of sperm head and ensuring sperm fertility. Defects in acrosome biogenesis can result in globozoospermia or teratozoospermia, causing male infertility. Although acrosome biogenesis is known to derive from the Golgi apparatus, the processes that trafficking, targeting and fusion of the Golgi-derived vesicles are yet to be fully understood. In this study, we demonstrated that ELAPOR1 abundantly expressed in spermatids was required for acrosome biogenesis during spermiogenesis. By selectively deleting Elapor1 in premeiotic germ cells, we found that ELAPOR1 deficient mice were male infertile and exhibited round-head, absence of acrosome, disorganized mitochondrial sheath and reduced sperm motility, phenotypically resembling human astheno-teratozoospermia. We further demonstrated that ELAPOR1 could recruit clathrin via the cytoplasmic adaptor-binding motif YSKL, and consequently contribute to the assembly of clathrin coated onto the vesicles derived from trans-Golgi network, which further mediated vesicle traffic and ultimately succeeded acrosome formation. Taken together, our findings revealed a novel role of ELAPOR1 in mediating the clathrin assembly and thereby involving in the transport of vesicles required for acrosome biogenesis during spermiogenesis. [Image: see text]
Differential protein expression profiles in human sperm from teratozoospermic and normozoospermic men identify LTBP1 and TGF-βR1 as potential biomarkers within the TGF-β signalling pathway.
Among cases of infertility, up to 50% are attributed to male infertility factors. Male infertility is associated with alterations in sperm proteins that are essential for normal sperm function. Alterations in proteins within the transforming growth factor-beta (TGF-β) signalling pathway are linked with several types of male infertility. However, the underlying mechanisms remain unclear. In this study, we proposed to use proteomic analysis to identify the proteomic profile in human sperm from normozoospermic (NOR) and teratozoospermic (TER) men. The results indicated 39 overlapping proteins associated with the TGF-β signalling pathway. Six proteins that were differentially expressed and had a log2 fold change of ≥ 1 or ≤ -1 were considered to be the differentially expressed proteins in human sperm between the groups. Among these proteins, the latent-transforming growth factor beta-binding protein 1 (LTBP1) was significantly increased in the TER group compared to the NOR group. Immunocytochemistry revealed that the protein expression of TGF-β receptor type 1 (TGF-βR1) was localised in the human sperm head. It was also significantly increased in the TER group. Validation analysis revealed that the mRNA expression levels of LTBP1 and TGFBR1 genes were significantly upregulated in the TER group relative to the NOR group. Interestingly, an increase in LTBP1 and TGF-βR1 protein expression was correlated with a decrease in the percentage of normal sperm morphology. Our findings, for the first time, demonstrate a significant association between the expression of LTBP1 and TGF-βR1 and abnormal sperm morphology, supporting their consideration as novel exploratory biomarkers for further investigation in infertility, especially in TER men.
Protein disulfide isomerase A6 (PDIA6) is essential for acrosome biogenesis and male fertility in mice.
The family of protein disulfide isomerases (PDIs) are thiol oxidoreductases located predominantly in the endoplasmic reticulum that catalyze thiol-disulfide exchange for normal protein folding. Recent studies have shown that this family enzymes such as PDI contribute to the meiosis of spermatocytes and male fertility. However, the role of PDIA6 in the PDI family in spermatogenesis has not been characterized using genetically modified animal models. A premeiotic PDIA6 conditional knockout (Stra8-Cre/Pdia6fl/fl) mouse model was generated for showing an essential role for PDIA6 in male fertility. To investigate the mechanism underlying the role of PDIA6 in this process, we performed a series of experiments including fertility assessment, scanning and transmission electron microscopy, TUNEL assay, spermatocyte spreading, immunofluorescence staining, intracellular calcium concentration measurement, 3-(N-maleimide-propionyl) biocytin (MPB) labeling and protein quantitative mass spectrometry. Abnormal round-headed shape resembling partial globozoospermia was observed in Stra8-Cre/Pdia6fl/fl mice. Ultrastructural analysis of PDIA6-deficient sperm demonstrated acrosome fragmentation and detachment from the nucleus, disrupted acroplaxome structure, disorganized flagellar axonemes, and cytoplasmic retention. PDIA6 deficiency also impaired the sperm acrosome reaction and calcium mobilization. Proteomic profiling revealed downregulation of acrosomal membrane and vesicle proteins, as well as calcium channel complexes in PDIA6-deficient testes. Moreover, PDIA6 deficiency down-regulated the synthesis of zona pellucida binding protein (ZPBP) in testes by impairing disulfide bond formation, and induced endoplasmic reticulum stress and apoptosis. PDIA6 is essential for redox regulation of protein synthesis and spermatogenesis causing male fertility in mice.
Lifestyle factors and prevalence of semen abnormalities among men undergoing infertility evaluation at oak specialist hospital: A retrospective cohort study.
Male infertility constitutes a notable health burden in Sub-Saharan Africa, contributing to approximately 40-50% of all infertility cases, compounded by cultural stigma and a grave knowledge issue. The study aimed to apply the updated World Health Organisation (WHO) 6th Edition (2021) criteria to a Ghanaian cohort, generating contemporary prevalence data on semen abnormalities. A retrospective cohort study design was employed, analysing the medical and laboratory records of 221 men who underwent semen analysis as part of an infertility investigation at Oak Specialist Hospital, Kumasi, Ghana. A consecutive sampling method was used to include all eligible patient records from September 1, 2022, to August 31, 2024. Key variables included semen parameters (volume, concentration, motility, morphology, leukocytes) analysed per WHO 2021 guidelines, and associated lifestyle and demographic factors. Data were analysed using descriptive statistics, prevalence rates, and regression analysis. The study identified high prevalence rates of oligozoospermia (38.91%) and teratozoospermia (38.46%). A critically high prevalence of leukocytospermia was the most striking finding, affecting 80.54% of the cohort. Regression analysis revealed significant negative associations between sugary drink consumption and sperm motility (p = 0.038) and a positive association between caffeine intake and sperm morphology (p = 0.011). Paradoxically, the cohort's median values for semen volume, concentration, and motility were significantly above the WHO 2021 lower reference limits. Using current international standards, this study provides updated baseline data on male infertility patterns in urban Ghana. The findings reveal a high burden of specific abnormalities, particularly in sperm morphology and leukocyte concentration, which may be more clinically relevant than simple concentration or motility deficits in this population. Modifiable lifestyle factors, such as diet, represent viable targets for public health intervention. These results are vital for clinical benchmarking, guiding targeted health strategies, and establishing a foundation for future comparative studies in similar resource-constrained settings.
Discovery of a Pathogenic NME5 Variant Underlying Acephalic Spermatozoa Syndrome: Unraveling a Novel Genotype-Phenotype Association in Male Infertility.
Acephalic spermatozoa syndrome (ASS) is a severe form of male infertility, but its genetic etiology remains largely unclear. In this study, we identified a novel homozygous frameshift variant in NME5 (c.163delA, p.Ser55Valfs*16) in an infertile man with ASS. Subsequent functional analyses revealed complete loss of NME5 protein. Moreover, ultrastructural analysis of sperm revealed abnormalities in the head-tail coupling apparatus (HTCA) and mitochondrial sheath, as well as defects in the radial spokes and microtubules. Immunofluorescence analysis further confirmed the near absence of the HTCA marker SPATA6 in the patient's sperm. In addition, NME5 expression was assessed across spermatogenic stages in both humans and mice, with predominant expression from round to elongated spermatids. Notably, the patient harboring the NME5 variant achieved a favorable clinical outcome after intracytoplasmic sperm injection. Overall, our findings revealed for the first time that NME5 is a causative gene for human ASS, further expanding the gene mutational spectrum associated with human male infertility and ultimately offering potential new avenues for diagnostic and therapeutic strategies in clinical practice.
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ELAPOR1 mediated vesicle traffic is required for acrosome biogenesis and male fertility in mice.
Cellular and molecular life sciences : CMLSSperm motility in mice with oligo-astheno-teratozoospermia restored by in vivo injection and electroporation of naked mRNA.
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Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHuman circBOULE RNAs as potential biomarkers for sperm quality and male infertility.
Journal of biomedical researchSodium arsenite impairs sperm quality via downregulating the ZMYND15 and ZMYND10.
Environmental toxicologyGlobal proteomic analyses of lysine acetylation, malonylation, succinylation, and crotonylation in human sperm reveal their involvement in male fertility.
Journal of proteomicsGenetic Causes of Qualitative Sperm Defects: A Narrative Review of Clinical Evidence.
GenesThe Effect of Neutral Alpha-Glucosidase on Semen Parameters.
Urologia internationalisPossible Impact of Human β-defensin 1 on sperm motility in infertile men with abnormal sperm parameters.
Reproductive biologyDiscovery of CCDC188 gene as a novel genetic target for human acephalic spermatozoa syndrome.
Protein & cellPhoenix dactylifera L. pollen versus pentoxifylline on improvement of sperm parameters in idiopathic male infertility: A randomized clinical trial.
Journal of ethnopharmacologyProbiotics supplementation in the treatment of male infertility: A Systematic Review.
JBRA assisted reproductionIsolated teratozoospermia: revisiting its relevance in male infertility: a narrative review.
Translational andrology and urologyBAG5 regulates HSPA8-mediated protein folding required for sperm head-tail coupling apparatus assembly.
EMBO reportsApplication of Intracytoplasmic Morphologically Selected Sperm Injection (IMSI) on a Teratozoospermic Patient and Its Effect on the In-Vitro Fertilization (IVF) Outcome.
CureusIs varicocoelectomy indicated in infertile men with isolated teratozoospermia? a systematic review and meta-analysis.
AndrologyGenotypic and Allelic Prevalence of the TGF- Β1 +869 C/T SNP and Their Relationship to Seminogram in Infertile Males.
Reports of biochemistry & molecular biologyA novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family.
Basic and clinical andrologyNovel variations in TENT5D lead to teratozoospermia in infertile patients.
AndrologySplicing Mutation in DNALI1 Causes Male Infertility with Severe Oligoasthenoteratozoospermia in Humans.
Reproductive sciences (Thousand Oaks, Calif.)Characterization of the semen microbiota of healthy stud dogs using 16S RNA sequencing.
TheriogenologyICSI using testicular spermatozoa after failure of ICSI with ejaculated spermatozoa could be a good choice: A propensity score-matched cohort study.
AndrologyICSI outcome after microdissection testicular sperm extraction, testicular sperm aspiration and ejaculated sperm.
Reproductive biologyDetection of chromosome aberrations in 17 054 individuals with fertility problems and their subsequent assisted reproductive technology treatments in Central China.
Human reproduction (Oxford, England)[Epidemio-clinical and seminal profile of the man consulting for the desire to procreate: current situation in Lubumbashi, in the Democratic Republic of Congo].
The Pan African medical journalDeleterious genetic changes in AGTPBP1 result in teratozoospermia with sperm head and flagella defects.
Journal of cellular and molecular medicineEffects of cigarette smoking on semen quality, reproductive hormone levels, metabolic profile, zinc and sperm DNA fragmentation in men: results from a population-based study.
Frontiers in endocrinologyThe correlation of Septin4 gene expression with sperm quality, DNA damage, and oxidative stress level in infertile patients.
Anatomy & cell biology[Intracytoplasmic sperm injection for patients with special types of teratozoospermia: Analysis of outcomes].
Zhonghua nan ke xue = National journal of andrology[Correlation of sperm DNA fragmentation index and high DNA stainability with teratospermia severity and the patient's age: A study of 1 393 infertile males].
Zhonghua nan ke xue = National journal of andrologyUnveiling the Genetic Complexity of Teratozoospermia: Integrated Genomic Analysis Reveals Novel Insights into lncRNAs' Role in Male Infertility.
International journal of molecular sciencesFactors associated with anxiety and depression in men undergoing fertility investigations: a cross-sectional study.
BMC psychologyAre epigenetic mechanisms and nutrition effective in male and female infertility?
Journal of nutritional sciencePredictive role of 17α-hydroxy-progesterone serum levels of response to follicle-stimulating hormone in patients with abnormal sperm parameters.
Fertility and sterilityA Case of Severe Teratozoospermia and Infertility Due to Homozygous Mutation c.144delC in the AURKC Gene.
CureusSeminal biomarkers and their correlations to semen parameters in subfertile men.
European journal of obstetrics & gynecology and reproductive biology: XDNA methylation biomarkers to identify epigenetically abnormal spermatozoa in male partners from couples experiencing recurrent pregnancy loss.
EpigeneticsNuclear sperm integrity and ICSI prognosis in Tunisian patients with MMAF syndrome (multiple morphological abnormalities of the sperm flagella).
Human fertility (Cambridge, England)Both reduced ovarian reserve and severe semen alterations are overrepresented in couples seeking assisted reproductive technology treatment for the first time: a cross-sectional study.
Reproductive healthThe constructive and destructive impact of autophagy on both genders' reproducibility, a comprehensive review.
AutophagyEffect of antioxidants on semen parameters in men with oligo-astheno-teratozoospermia: a network meta-analysis.
AndrologyThe identification of AMZ2 as a candidate causative gene in a severe teratozoospermia patient characterized by vacuolated spermatozoa.
Asian journal of andrologyA novel nonsense mutation of PNLDC1 associated with male infertility due to oligo-astheno-teratozoospermia in a consanguineous Chinese family.
QJM : monthly journal of the Association of PhysiciansNovel modified criteria for sperm morphology in oocyte insemination could reduce ICSI rates without affecting IVF outcomes.
Taiwanese journal of obstetrics & gynecologyVariation of the genes encoding antioxidant enzymes SOD2 (rs4880), GPX1 (rs1050450), and CAT (rs1001179) and susceptibility to male infertility: a genetic association study and in silico analysis.
Environmental science and pollution research internationalCFAP70 is a solid and valuable target for the genetic diagnosis of oligo-astheno-teratozoospermia in infertile men.
EBioMedicinePhytochemical consumption and the risk of teratozoospermia: findings from a hospital-based case-control study in China.
Human reproduction openIs telomere length a biomarker of sperm quality? A systematic review and meta-analysis of observational studies.
AndrologySemen Analysis in "Urology-Naïve" Patients: A Chance of Uroandrological Screening in Young Males.
Journal of clinical medicineThe role of homozygous LOF variant of the PNLDC1 gene in oligo-astheno-teratozoospermia (OAT) and male infertility.
Asian journal of andrologyTargeted Amino Acids Profiling of Human Seminal Plasma from Teratozoospermia Patients Using LC-MS/MS.
Reproductive sciences (Thousand Oaks, Calif.)Polymorphic Rearrangements of Human Chromosome 9 and Male Infertility: New Evidence and Impact on Spermatogenesis.
BiomoleculesIs sperm telomere length altered in teratozoospermia specimens? A case-control study.
International journal of reproductive biomedicineRelationships between semen quality and fertility in a population of infertile men in Erbil city.
Cellular and molecular biology (Noisy-le-Grand, France)Trends in semen parameters of infertile men in South Africa and Nigeria.
Scientific reportsAltered ureido protein modification profiles in seminal plasma extracellular vesicles of non-normozoospermic men.
Frontiers in endocrinologyExpression profiles of meiotic genes in male vs. female gonads and gametes: Insights into fertility issues.
Frontiers in geneticsA novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility.
Asian journal of andrologyIn vitro effects of plasma rich in growth factors on human teratozoospermic semen samples.
Systems biology in reproductive medicineAssisted Oocyte Activation following Intracytoplasmic Sperm Injection: A Sensible Option for Infertile Couples with Severe Teratozoospermia.
International journal of fertility & sterility[Differential expressions of seminal plasma piRNAs in men and its significance].
Zhonghua nan ke xue = National journal of andrology[Detection of pathogenic variants in four patients with globozoospermia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsEvaluation of the efficacy of creatine chemical exchange saturation transfer imaging in assessing testicular maturity.
Reproductive medicine and biologyContribution to a better analysis of spermatic and ultrasound testicular parameters in the follow-up of male infertility at the Histology Embryology Cytogenetic Laboratory of Cheikh Anta Diop University (UCAD).
Morphologie : bulletin de l'Association des anatomistesCorrelation study of male semen parameters and embryo aneuploidy in preimplantation genetic testing for aneuploidy.
Frontiers in endocrinologyNew Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella.
International journal of molecular sciencesMolecular genetic mechanisms of teratozoospermia.
Zygote (Cambridge, England)Comparative study between SpermSlow™ hyaluronan and traditional sperm selection in ICSI outcome.
Zygote (Cambridge, England)Oxytocin preprotein and oxytocin receptor mRNA expression is altered in semen samples with abnormal semen parameters.
Reproductive biomedicine onlineCompound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case report.
World journal of clinical casesA novel homozygous mutation in ACTL7A leads to male infertility.
Molecular genetics and genomics : MGGMutations in CCIN cause teratozoospermia and male infertility.
Science bulletinExpanding the sperm phenotype caused by mutations in SPATA20: A novel splicing mutation in an infertile patient with partial globozoospermia.
Clinical geneticsHuman globozoospermia-related genes and their role in acrosome biogenesis.
WIREs mechanisms of diseaseSelf-reported sleep quality and oligo/astheno/teratozoospermia among men attending an infertility clinic: a longitudinal study.
Sleep & breathing = Schlaf & AtmungAssociation between Sperm Morphology and Altered Sperm microRNA Expression.
BiologyIdentification of nonfunctional SPATA20 causing acephalic spermatozoa syndrome in humans.
Clinical geneticsType 2 diabetes mellitus and the risk of abnormal spermatozoa: A Mendelian randomization study.
Frontiers in endocrinologyHealthy birth in a case of total globozoospermia after intracytoplasmic sperm injection and assisted oocyte activation.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieDetection of Chlamydia trachomatis inside spermatozoa using flow cytometry: Effects of antibiotic treatment (before and after) on sperm count parameters.
Journal of microbiological methodsINFLUENCE OF ADDING ZINC ARGINYLE-GLYCINATE TO IMPROVE EFFICACY OF BIOREGULATORY PEPTIDES OF THE PROSTATE GLAND IN TREATMENT OF PATIENTS WITH IMPAIRED SPERM PARAMETERS.
Georgian medical newsTestis-specific serine kinase 3 is required for sperm morphogenesis and male fertility.
AndrologyLocalization Patterns of RAB3C Are Associated with Murine and Human Sperm Formation.
Medicina (Kaunas, Lithuania)Correlation between Sperm Micro Ribonucleic Acid-34b and -34c Levels and Clinical Outcomes of Intracytoplasmic Sperm Injection in Men with Male Factor Infertility.
International journal of molecular sciencesAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- ELAPOR1 mediated vesicle traffic is required for acrosome biogenesis and male fertility in mice.
- Differential protein expression profiles in human sperm from teratozoospermic and normozoospermic men identify LTBP1 and TGF-βR1 as potential biomarkers within the TGF-β signalling pathway.
- Protein disulfide isomerase A6 (PDIA6) is essential for acrosome biogenesis and male fertility in mice.
- Lifestyle factors and prevalence of semen abnormalities among men undergoing infertility evaluation at oak specialist hospital: A retrospective cohort study.
- Discovery of a Pathogenic NME5 Variant Underlying Acephalic Spermatozoa Syndrome: Unraveling a Novel Genotype-Phenotype Association in Male Infertility.
- Advancements in Spermatogenesis In Vitro: From Murine Success to Human Applications.
- PAN2 maintains mRNA poly(A) tail homeostasis and regulates translation during spermiogenesis in mice.
- Biallelic variants in TBC1D8 are potentially associated with male infertility due to non-obstructive azoospermia or cryptozoospermia.
- Dnmt3a2 expression during embryonic development is required for phenotypic stability.
- Protective effects of 20(R) ginsenoside Rg3 on DBP-induced reproductive injury in mice through Nrf2/ARE pathway.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:171709(Orphanet)
- MONDO:0015746(MONDO)
- GARD:12502(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q27043982(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
