OBSOLETO. A infertilidade masculina com azoospermia ou oligospermia devido a mutação de um único gene é uma infertilidade masculina genética rara devido a distúrbio espermático caracterizado pela ausência de uma quantidade mensurável de espermatozóides no ejaculado (azoospermia), ou um número de espermatozoides no ejaculado inferior a 15 milhões/mL (oligozoospermia), resultante de uma mutação em um único gene conhecido por causar azoo- ou oligo-espermia. A morfologia do esperma pode ser normal.
Introdução
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OBSOLETO. A infertilidade masculina com azoospermia ou oligospermia devido a mutação de um único gene é uma infertilidade masculina genética rara devido a distúrbio espermático caracterizado pela ausência de uma quantidade mensurável de espermatozóides no ejaculado (azoospermia), ou um número de espermatozoides no ejaculado inferior a 15 milhões/mL (oligozoospermia), resultante de uma mutação em um único gene conhecido por causar azoo- ou oligo-espermia. A morfologia do esperma pode ser normal.
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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 7 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
37 genes identificados com associação a esta condição.
Acts as a transcriptional repressor through interaction with histone deacetylases (HDACs). May be important for spermiogenesis
NucleusCytoplasm
Spermatogenic failure 14
A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.
ATP-binding RNA helicase required during spermatogenesis (PubMed:28536242). Required to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Acts downstream of piRNA biogenesis: exclusively required for trans
CytoplasmNucleus
Spermatogenic failure 30
An autosomal recessive infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia or cryptozoospermia.
Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I (By similarity)
CytoplasmNucleus
Spermatogenic failure 32
An autosomal dominant infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia.
As a strong inhibitor of acrosin, it is required for normal spermiogenesis. It probably hinders premature activation of proacrosin and other proteases, thus preventing the cascade of events leading to spermiogenesis defects (PubMed:28554943). May be involved in the regulation of serine protease-dependent germ cell apoptosis (By similarity). It also inhibits trypsin
SecretedCytoplasmic vesicle, secretory vesicle, acrosome
Spermatogenic failure 29
An autosomal recessive infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia or oligozoospermia. When produced, spermatozoa are immotile and have abnormal morphology, primarily defects of the acrosome and head-neck junction.
Single-stranded DNA-binding protein required for homologous recombination in meiosis I. Required for double strand breaks (DSBs) repair and crossover formation and promotion of faithful and complete synapsis. Not required for the initial loading of recombinases but required to maintain a proper number of RAD51 and DMC1 foci after the zygotene stage. May act by ensuring the stabilization of recombinases, which is required for successful homology search and meiotic recombination. Displays Single-s
CytoplasmNucleusChromosome
Spermatogenic failure 22
An infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia.
Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (PubMed:34237282). Probable inner arm dynein heavy chain
Cytoplasm, cytoskeleton, cilium axoneme
Spermatogenic failure 56
An autosomal recessive male infertility disorder characterized by severely reduced sperm motility, due to multiple morphologic abnormalities of the flagella.
SUMO E3 ligase that acts as a regulator of crossing-over during meiosis: required to couple chromosome synapsis to the formation of crossover-specific recombination complexes. Localizes to recombination sites and stabilizes meiosis-specific recombination factors, such as MutS-gamma complex proteins (MSH4 and MSH5) and TEX11. May mediate sumoylation of target proteins MSH4 and/or MSH5, leading to enhance their binding to recombination sites. Acts as a limiting factor for crossover designation and
NucleusChromosome
Spermatogenic failure 62
An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia, due to complete metaphase arrest at the spermatocyte stage.
Meiosis specific component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I
NucleusChromosomeChromosome, centromere
Premature ovarian failure 8
An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
ATP-dependent RNA helicase required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Involved in the primary piRNA metabolic process. Specifically binds to piRNA precursors and promo
Cytoplasm
Spermatogenic failure 73
An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia due to meiotic arrest.
Essential for the normal assembly and function of sperm flagella axonemes
Cell projection, cilium, flagellum
Spermatogenic failure 65
An autosomal recessive male infertility disorder characterized by asthenoteratozoospermia. Progressive sperm motility is severely reduced or absent due to multiple morphologic abnormalities of the flagella.
Involved in spermatogenesis. Has a probable role in anterograde intraflagellar transport which is essential for the formation of sperm flagella
Cell projection, cilium, flagellum
Spermatogenic failure 76
An autosomal recessive male infertility disorder characterized by oligoasthenoteratozoospermia, and abnormally shaped spermatozoa in the semen of affected individuals. Sperm flagella have multiple morphological abnormalities, including short, absent, and irregular caliber flagella.
Required during spermatogenesis for normal chromosome synapsis and meiotic recombination in germ cells. Necessary for formation of DMC1 and RAD51 foci on meiotic chromosomes, suggesting a specific role in DNA double-stranded break repair (By similarity). Essential executor of PIWIL4-piRNA pathway directed transposon DNA methylation and silencing in the male embryonic germ cells (By similarity). PIWIL4-piRNA binds to nascent transposon transcripts and interacts with TEX15, which may in turn recru
CytoplasmNucleus
Spermatogenic failure 25
An autosomal recessive infertility disorder caused by spermatogenesis defects that result in severe oligozoospermia or azoospermia.
Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until fertilization. Acts by inhibiting the anaphase-promoting complex/cyclosome (APC/C) ubiquitin ligase. Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation (PubMed:34052850, PubMed:34595750). Plays a vital role in modulating the ubiquitilation of CCNB1 and CDK1 during gametogenesis
Oocyte/zygote/embryo maturation arrest 12
An autosomal recessive disorder characterized by infertility due to early embryonic arrest.
Component of the central pair apparatus of ciliary axonemes. Plays a critical role in the function and structure of motile cilia. May play a role in endochondral bone formation, most likely because of a function in primary cilia of chondrocytes and osteoblasts (By similarity). Essential for normal spermatogenesis and male fertility (By similarity). Required for normal manchette structure, transport of proteins along the manchette microtubules and formation of the sperm head and flagellum (By sim
CytoplasmCytoplasm, cytoskeleton, flagellum axonemeCytoplasmic vesicle, secretory vesicle, acrosomeGolgi apparatusCytoplasm, cytoskeleton
Spermatogenic failure 55
An autosomal recessive male infertility disorder characterized by asthenozoospermia. Semen analysis shows severely reduced sperm motility.
May act as a translational repressor which regulates translation of specific mRNAs by forming a complex with PUM2 that associates with the 3'-UTR of mRNA targets. Capable of interfering with the proadhesive and anti-invasive functions of E-cadherin. Up-regulates the production of MMP14 to promote tumor cell invasion
Cytoplasm, perinuclear regionCytoplasm
Spermatogenic failure 12
An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. Non-obstructive azoospermia, oligozoospermia and oligo-astheno-teratozoospermia are features observed in SPGF12 patients.
Involved in DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis (By similarity)
Premature ovarian failure 13
An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
Plays a role in primary ciliogenesis by modulating actin polymerization
NucleusCytoplasmCell membraneCytoplasm, cytoskeleton
Spermatogenic failure 54
An autosomal recessive male infertility disorder characterized by oligoteratoasthenozoospermia. Semen analysis shows markedly reduced sperm counts and severely reduced or absent sperm motility.
Plays a role in spermatogenesis, possibly acting in the regulation of the autophagy pathway
CytoplasmCytoplasmic vesicle, secretory vesicle, acrosomeCell projection, cilium, flagellum
Spermatogenic failure, X-linked, 7
A male infertility disorder characterized by a significant reduction in sperm count and motility, and aberrant sperm morphology with abnormalities of the head and flagella. Patient sperm show insufficient individualization, excessive residual cytoplasm, and defects in acrosome development.
Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. Du
Chromosome, telomereNucleus inner membrane
Spermatogenic failure 60
An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia, due to sperm maturation arrest before the pachytene stage.
Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:12529365, PubMed:12588899, PubMed:12727866, PubMed:15010471, PubMed:17036051, PubMed:1712898, PubMed:17182731, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:26846474, PubMed:2808770
Apical cell membraneEarly endosome membraneCell membraneRecycling endosome membraneEndoplasmic reticulum membraneNucleus
Cystic fibrosis
A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive.
Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD51 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 c
NucleusCytoplasm, cytoskeleton, microtubule organizing center, centrosome
Fanconi anemia, complementation group U
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Cell type-specific subunit of the general transcription factor TFIID that may function as a gene-selective coactivator in certain cells. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. TAF4B is a transcriptional coactivator of the p65/RELA NF-kappa-B subunit. Involved in the activation of a subset of antiapoptotic genes including TNFAIP3. May be involved in regulating folliculogenesis. Through interaction with
NucleusCytoplasm
Spermatogenic failure 13
A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.
ATPase required during meiosis for the formation of crossover recombination intermediates (By similarity). Binds DNA: preferentially binds to single-stranded DNA and DNA branched structures (PubMed:29742103). Does not show nuclease activity in vitro, but shows ATPase activity, which is stimulated by the presence of single-stranded DNA (PubMed:29742103). Plays a key role in homologous recombination and crossing-over in meiotic prophase I in male and female germ cells (By similarity). Required for
Chromosome
Spermatogenic failure 75
An autosomal recessive disorder characterized by male infertility due to non-obstructive azoospermia resulting from maturation arrest at the spermatocyte stage.
Testis-specific component of the ribosome, which is required for the transition from prophase to metaphase in male meiosis I (By similarity). Compensates for the inactivated X-linked RPL10 paralog during spermatogenesis (PubMed:12490704). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:32669547). The male germ cell-specific ribosome displays a ribosomal polypeptide exit tunnel of distinct size and c
Cytoplasm
Spermatogenic failure 63
An autosomal recessive male infertility disorder characterized by severe oligozoospermia and reduced progressive sperm motility.
Required both for the formation of intercellular bridges during meiosis and for kinetochore-microtubule attachment during mitosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells and are required for spermatogenesis and male fertility. Acts by promoting the conversion of midbodies into intercellular bridges via its interaction with CEP55: interaction with CEP55 inhibits the interaction between CEP55 and PDCD6IP/ALIX and TSG101, blocking cell
CytoplasmMidbodyChromosome, centromere, kinetochore
Spermatogenic failure 23
An infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia.
Involved in early stages of the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Required for meiotic progression, hence for fertility (PubMed:32719396, PubMed:33713115, PubMed:34402903)
Nucleus
Ovarian dysgenesis 10
An autosomal recessive form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.
DNA-dependent ATPase component of the Fanconi anemia (FA) core complex (PubMed:16116422). Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:16116422, PubMed:19423727, PubMed:20347428, PubMed:20347429, PubMed:29231814). In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork-structured DNA (fsDNA) a
Nucleus
Spermatogenic failure 28
An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligoasthenospermia or non-obstructive azoospermia.
Regulator of crossing-over during meiosis. Involved in initiation and/or maintenance of chromosome synapsis and formation of crossovers
Chromosome
Spermatogenic failure, X-linked, 2
An infertility disorder caused by spermatogenesis defects. It is characterized by mixed testicular atrophy and azoospermia with meiotic arrest.
May be a substrate-specific adapter of a CUL3-based E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins during spermatogenesis
Cytoplasm
Spermatogenic failure 11
An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. Oligozoospermia is usually observed in SPGF11 patients. In addition to oligozoospermia, teratozoospermia and moderate asthenozoospermia is observed in some cases.
3'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails (PubMed:27515512). Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs and is also used to silence certain maternal mRNAs translationally during oocyte maturation and early embryonic development (PubMed:27515512). May act as a regulator of multipotency in embryonic stem cells (By similarity). Is a critical factor for proper spermatog
Endoplasmic reticulum membrane
Spermatogenic failure 57
An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia, due to error-prone meiosis and spermatogenic arrest at the late pachytene stage.
Together with PDHB forms the heterotetrameric E1 subunit of the pyruvate dehydrogenase (PDH) complex in testis (PubMed:14638692). The PDH complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links cytoplasmic glycolysis and the mitochondrial tricarboxylic acid (TCA) cycle (Probable). It contains multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3) (Probable)
Mitochondrion matrix
Spermatogenic failure 70
An autosomal recessive male infertility disorder characterized by azoospermia, sperm immotility or necrozoospermia. Hypospermatogenesis and meiotic arrest have also been observed.
Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synaptonemal complex assembly, stabilization and recombination
NucleusChromosome
Premature ovarian failure 12
An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
Meiotic protein that localizes to the central element of the synaptonemal complex and is required for chromosome synapsis during meiotic recombination. Required for the appropriate processing of intermediate recombination nodules before crossover formation
Chromosome
Spermatogenic failure 52
An autosomal recessive infertility disorder characterized by azoospermia due to meiotic arrest at the spermatocyte stage.
Component of the synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for centromere pairing during meiosis in male germ cells (By similarity). Required for normal meiosis during spermatogenesis and male fertility (PubMed:14643120). Plays a lesser role in female fertility. Required for efficient phosphorylation of HORMAD1 and HORMAD2 (By similarity)
NucleusChromosomeChromosome, centromere
Spermatogenic failure 4
An infertility disorder characterized by azoospermia, a condition of having no sperm present in the ejaculate. Testicular histology shows arrest of spermatogenesis at the pachytene stage of primary spermatocytes.
Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues (PubMed:27378692). Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1 (PubMed:27378692). The SFPQ-NONO-NR5A1 complex binds to the CYP17
Nucleus
46,XY sex reversal 3
A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.
May play a role in DNA-protein cross-links (DPCs) clearance through a SUMO-dependent recruitment to sites of DPCs, ensuring the genomic stability by protecting germ cells and early embryos from various sources of damage (PubMed:30914427). Can resolve the topoisomerase II (TOP2A) DPCs (By similarity)
NucleusNucleus, PML bodyChromosome
Spermatogenic failure, X-linked, 4
A male infertility disorder characterized by non-obstructive azoospermia or oligoasthenoteratozoospermia. Some patients present spermatogenic maturation arrest with an almost complete absence of early and late primary spermatocytes.
Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. Du
Chromosome, telomereNucleus inner membrane
Spermatogenic failure 59
An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia, due to sperm maturation arrest.
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
334 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 75 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
57 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 — Infertilidade masculina com azoospermia ou oligozoospermia por mutação em um único gene
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
A multi-mics exploration of programmed cell death in non-obstructive azoospermia: identifying TLR4 as a central regulator and therapeutic target.
Male infertility (MI) is a globally recognized public health challenge, affecting approximately 18% of men of reproductive age worldwide. Non-obstructive azoospermia (NOA) is a major cause of NOA and is associated with dysregulated programmed cell death (PCD). However, the precise role and mechanisms of PCD in the pathogenesis of NOA remain poorly understood. In this study, target genes associated with both PCD and NOA were retrieved from multiple public databases. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses were then performed to explore underlying mechanisms. Subsequently, protein-protein interaction (PPI) network analysis identified hub genes within the network. Mendelian randomization (MR) analysis was further conducted to establish a causal relationship between key genes and NOA susceptibility. Thereafter, in vitro cell and molecular biology experiments validated the impact of the pathogenic gene on LPS-induced GC-1 spg (ts) cell injury. Finally, we queried the Comparative Toxicogenomics Database (CTD) to identify environmental exposures and natural bioactive products targeting the pathogenic gene, followed by molecular docking analysis to confirm their interactions. Our analysis identified 150 PCD-related genes that were dysregulated in NOA. GO and KEGG enrichment analyses indicated that these targets primarily regulate cell death, senescence, inflammation, oxidative stress, and various biosynthetic processes. PPI analysis identified 10 hub genes: HIF1A, TLR4, MDM2, GPX4, SNCA, MTOR, CSNK2A2, ATG5, CTSS, and PIK3CA. Subsequent MR analysis established TLR4 as being causally associated with an increased risk of NOA. In vitro experiments confirmed the involvement of TLR4 in LPS-induced damage to GC-1 spg (ts) cells. Finally, CTD database screening and molecular docking analyses identified 8 common environmental pollutants and 9 natural active products that potentially target TLR4, thereby influencing the initiation and progression of NOA. This study advances the understanding of PCD in the pathogenesis of NOA. It identifies and underscores the critical role of the core PCD-related gene TLR4 in NOA development, highlighting the necessity for strategies aimed at mitigating its negative impact on fertility.
Self-esteem in crisis: Psychosocial adaptation and masculine identity among Chinese men with azoospermia.
Azoospermia affects 1% of men and 10-20% of infertile males, yet the psychosocial mechanisms underlying self-esteem impairment remain poorly characterized. Guided by Connell's Masculinity Theory and Bury's Biographical Disruption Framework, this mixed methods study examined self-esteem experiences among Chinese men with azoospermia. An explanatory sequential design was employed. Phase 1 surveyed 216 men using Rosenberg's Self-Esteem Scale, with multiple regression identifying predictors. Phase 2 involved semi-structured interviews with 16 purposively sampled participants, analyzed through thematic analysis. Integration of quantitative and qualitative findings provided comprehensive interpretation. Quantitative analysis revealed moderate self-esteem overall (mean = 30.18 ± 3.99), with 10.19% exhibiting low self-esteem. Significant predictors included monthly income (β = 0.210, p < 0.001), family harmony (β = 0.141, p = 0.028), and attitudes toward childbearing discussions (β = 0.159, p = 0.014). Qualitative findings identified five themes, including economic burden, family dynamics, social stigma, treatment uncertainty, and cumulative psychological impacts. Integration demonstrated financial capacity's dual role as both practical enabler and symbolic compensation for perceived masculine failure. Self-esteem in azoospermic men is shaped by interconnected economic, familial, and social factors. Clinical interventions should integrate financial counseling, family-based emotional support, and culturally tailored stigma reduction, highlighting the value of mixed methods in understanding male infertility psychosocial dimensions.
[Clinical and genetic features of pedigrees with NR5A1 related disorders of sex development].
Objective: To summarize the clinical characteristics of children with disorders of sex development (DSD) carrying NR5A1 gene variations and their families. Methods: A case-series study was conducted. Clinical data were collected and analyzed for of 17 pediatric DSD cases with NR5A1 gene variants and their families at Beijing Children's Hospital, Capital Medical University from January 2010 to December 2024. Results: The age at initial diagnosis of the 17 children was 4.7 (1.2, 10.7) years. The sex assigned at initial presentation was male in 9 cases and female in 8. All children had testicular gonadal tissue, with no residual Müllerian or ovotesticular structures observed. None exhibited adrenal insufficiency. The external masculinization score (EMS) was 3.0 (0, 4.0).Among the 17 probands, 10 cases had maternally inherited variations. Associated maternal phenotypes included 5 premature ovarian failure, 4 irregular menstruation, and a single case with no reported phenotype. Premature ovarian failure was also reported in 3 maternal grandmother. Seven probands had paternally inherited variants. Associated paternal phenotypes included 3 oligospermia and asthenospermia, 3 DSD phenotype, and 1 father with no reported phenotype. Of the 6 patients who had entered puberty, 4 exhibited significantly elevated basal follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels, with a more pronounced increase in FSH, alongside decreased levels of anti-Müllerian hormone (AMH) and inhibin B. Among the 10 prepubertal children, 8 underwent human chorionic gonadotropin (hCG) stimulation tests, 6 of these patients showed a good testosterone response to hCG stimulation, while 2 demonstrated a poor response (cases 6, 12). Genetic testing identified a total of 17 distinct variants, comprising 9 missense, 3 nonsense, 1 synonymous, 3 in-frame deletions or insertions, and 1 start codon variant. Among these, 9 had been previously reported, while 8 were novel. Of the 8 children initially assigned female sex, 5 underwent reassignment to male. No cases involved reassignment from male to female. Conclusions: The clinical spectrum of phenotypes associated with NR5A1-retated DSD is broad. Fertility is possible for individuals carrying these variants, regardless of their personal phenotypic expression. Notably, children reared females may later undergo gender reassignment to male. 目的： 分析NR5A1基因变异致性发育异常（DSD）患儿及其家系的临床表现及遗传学特征。 方法： 病例系列研究。收集2010年1月至2024年12月就诊于首都医科大学附属北京儿童医院的17例NR5A1基因变异DSD患儿及其家系临床资料，分析其临床表型和遗传学特征。 结果： 17例患儿初诊年龄4.7（1.2，10.7）岁，患儿初诊时的社会性别9例为男性、8例为女性。所有患儿性腺组织均为睾丸，无残留苗勒管结构或卵睾结构，无患儿存在肾上腺皮质功能减退表现，外生殖器男性化评分（EMS）值为 3.0（0，4.0）分。变异来源于母亲者10例，其中母亲卵巢早衰5例、月经不规律4例、暂无表型携带者1例；外祖母卵巢早衰3例。变异来源于父亲者7例，父亲少精和弱精3例、DSD表型3例、暂无表型携带者1例。6例青春期患儿中4例基础促卵泡激素、基础黄体生成素水平显著升高，抗苗勒管激素和抑制素B水平降低。10例青春期前患儿，8例行人绒毛膜促性腺激素（hCG）激发试验，其中6例hCG激发后睾酮反应良好，2例反应不佳（例6、12）。基因检测共发现17个变异位点，包括9个错义变异、3个无义变异、1个同义变异、3个框内变异、1个起始密码子变异；有9个已报道过的变异和8个未报道过的变异。8例初诊时女性患儿中5例转变为男性，无由男性向女性性别的转变。 结论： NR5A1基因变异DSD临床表型谱广泛，携带变异无论有无表型均可能生育，生后按女性抚养者有后期转变为男性可能。.
Inflammation-induced LncRNA SNHG1 orchestrates spermatogonium development in non-obstructive azoospermia via IL-17 A signaling pathway.
Non-obstructive azoospermia (NOA) is a critical subtype of male infertility associated with inflammation. However, the molecular mechanisms underlying this phenomenon remain poorly understood. This study investigated the role of the inflammation-activated long non-coding RNA SNHG1 in NOA pathogenesis. Using lipopolysaccharide (LPS)-induced orchitis mouse models and spermatogonium cell lines (GC-1 spg and TCAM-2), we observed that both SNHG1 and the transcription factor SP1 were significantly upregulated, correlating with spermatogonium proliferation and loss of stemness. Mechanistically, SP1 directly binds to and transcriptionally activates the SNHG1 promoter, whereas SNHG1 knockdown rescued LPS-induced spermatogonium dysfunction without affecting SP1 expression. RNA-seq revealed that SNHG1 overexpression activated the IL-17 A signaling pathway. Notably, IL-17 A receptor blockade (Brodalumab) reversed the SNHG1-mediated proliferation arrest and stemness. Our findings demonstrated that the SP1-SNHG1-IL-17 A axis drives inflammatory spermatogenic failure, suggesting IL-17 A inhibition as a potential therapeutic direction.
G-quadruplex structures are key regulators of mammalian spermatogenesis.
Male infertility, impacting 8–12% of couples globally, often lacks clear etiology. G-quadruplexes (G4s), noncanonical DNA structures, are implicated in genomic regulation but remain underexplored in spermatogenesis. This study investigates G4 dynamics and their roles in male fertility. We employed antibody-based staining, cleavage under targets and tagmentation (CUT&Tag) sequencing, and a novel nanobody-based proximity labeling system (nanoG4BPL) to map G4 distribution and interacting proteins in mouse testicular cells. In vivo G4 stabilization with pyridostatin and clinical analysis of testicular tissues from patients with nonobstructive azoospermia (NOA) were conducted. G4 structures are enriched in testicular tissues, displaying stage-specific dynamics during spermatogonial differentiation, meiosis, and spermiogenesis. Genome-wide profiling revealed the dual roles of G4s in coordinating gene expression with active epigenetic marks and facilitating genome architecture via CTCF interactions. G4 stabilization disrupted double-strand break repair during meiosis, with nanoG4BPL identifying Nijmegen breakage syndrome 1 (NBS1) as a G4-interacting protein promoting phase separation for homologous recombination. Clinically, patients with NOA exhibited significantly elevated G4 levels in spermatocytes. G4 structures are critical regulators of spermatogenesis, orchestrating gene expression, chromatin remodeling, and meiotic fidelity. Their dysregulation, particularly in patients with NOA, suggests a mechanistic link to male infertility, providing novel insights into its pathogenesis and highlighting potential avenues for future diagnostic or therapeutic exploration. The online version contains supplementary material available at 10.1186/s11658-025-00839-y.
Publicações recentes
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The Medical journal of AustraliaVasectomy for Housing With Recipient of Embryo Transfer in the Common Marmoset (Callithrix jacchus).
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Medicina (Kaunas, Lithuania)Post-cycle therapy after short-term anabolic-androgenic steroid use: comparative outcomes in recreational bodybuilders.
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Proceedings of the National Academy of Sciences of the United States of AmericaDistinct post-insemination dynamics between fresh and frozen-derived gametes using testicular sperm.
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Cellular and molecular life sciences : CMLSErucic acid impairs male fertility by suppressing retinoic acid synthesis in sertoli cells.
Ecotoxicology and environmental safety[Testicular Sperm Extraction in an Unmarried Male Patient with Spinal Cord Injury : A Case Report].
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Medicina (Kaunas, Lithuania)Compound heterozygous DMC1 variants cause non-obstructive azoospermia by defective replication protein A replacement.
Reproductive biomedicine onlineCorrelation between semen quality and the seminal biochemical markers: alpha-glucosidase, fructose, and zinc in infertile men compared with a normal population of men.
Frontiers in endocrinologyComprehensive Fertility Management After Pituitary Adenoma Surgery: Lessons from a Rural Japanese Case and Practical Review.
Reports (MDPI)Novel PNLDC1 mutations underlie nonobstructive azoospermia in humans and mice.
Human molecular geneticsCystic fibrosis: influence of CFTR variants on epididymal sperm recovery and ICSI results.
Reproductive biomedicine onlineThe intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.
Human reproduction updateGenetic and epigenetic landscape of male infertility.
Trends in genetics : TIGNanoparticle-mediated hyperthermia for male cat neutering: Disrupting fertility without surgery.
TheriogenologyIdentification of missense DMC1 variants in males with non-obstructive azoospermia.
Journal of assisted reproduction and geneticsStress granule-mediated ZBP1 activation drives necroptotic cell death in non-obstructive azoospermia and testicular aging.
Proceedings of the National Academy of Sciences of the United States of AmericaRecent Trends in the Management of Varicocele.
Journal of clinical medicineExploring Human Sperm Metabolism and Male Infertility: A Systematic Review of Genomics, Proteomics, Metabolomics, and Imaging Techniques.
International journal of molecular sciencesArtificial Gametogenesis and In Vitro Spermatogenesis: Emerging Strategies for the Treatment of Male Infertility.
International journal of molecular sciencesNatural pregnancy following kidney transplantation in an azoospermic male: a case report.
Translational andrology and urology[Clinical and genetic analysis of a patient with FSIP2 compound heterozygous variants causing multiple morphological abnormalities of sperm flagella].
Zhonghua nan ke xue = National journal of andrology[NSD1 regulates H3K36me2 in the pathogenesis of non-obstructive azoospermia].
Zhonghua nan ke xue = National journal of andrology[Artificial intelligence fluorescence method versus traditional flow cytometry for detection of sperm DFI in oligospermia patients].
Zhonghua nan ke xue = National journal of andrology[Clinical and genetic analysis of a case of Kartagener syndrome with obstructive azoospermia induced by biallelic variation of CCDC114].
Zhonghua nan ke xue = National journal of andrology[Immunological mechanism of non-obstructive azoospermia: An exploration based on bioinformatics and machine learning].
Zhonghua nan ke xue = National journal of andrology[Longitudinal intussusception versus end-to-side vasoepididymostomy: Comparison of their recanalization rates].
Zhonghua nan ke xue = National journal of andrologyAnalysis of histone modifications in key cellular subpopulations in the context of azoospermia using spermatogenic single-cell RNA-seq data.
Frontiers in bioinformatics[Sperm donation utilization rates in nonobstructive azoospermia patients under different testicular sperm retrieval methods during assisted reproductive technology cycles].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesLoss of Different Domains of TDRD12 Leads to Distinct Male Infertility-Related Phenotypes.
Clinical geneticsPandemic of testosterone abuse: Considerations for male fertility.
Arab journal of urologyMen with genetic predisposition face greater fertility challenges when exposed to electromagnetic radiation.
Molecular biology reportsRare 48, XXYY Syndrome with Primary Infertility and Behavioural Disorder: A Case Report.
Journal of human reproductive sciencesSerum total testosterone and testicular histology help predicting positive sperm retrieval in nonmosaic Klinefelter patients undergoing testicular sperm extraction: real-life data from a large multicenter cohort.
Fertility and sterilityIntegrative causal and single-cell analyses reveal genes responsive to endocrine disruptors driving human male infertility.
Ecotoxicology and environmental safetyMeiotic Arrest and Synaptonemal Complex Failure in Infertile Men with Y Chromosome Microdeletions.
Cytogenetic and genome researchSurgical sperm retrieval in patients with nonmosaic Klinefelter syndrome (47,XXY) may be safely delayed until adulthood: a systematic review and meta-analysis.
Fertility and sterilityTreatment with isotretinoin can improve de novo sperm production in nonobstructive azoospermia or cryptozoospermia.
Journal of assisted reproduction and geneticsExpression of marker genes to assess the spermatogenic capacity in patients with idiopathic non-obstructive azoospermia.
Journal of assisted reproduction and geneticsTKTL1: a new candidate gene in non-obstructive azoospermia.
Reproductive biomedicine onlineCompensation for X-linked Pdha1 silencing by Pdha2 is essential for meiotic double-strand break repair in spermatogenesis.
Development (Cambridge, England)The Effects of Varicocele Repair on Testicular Sperm Retrieval, Sperm Recovery in the Ejaculate and Clinical Pregnancy Rates in Non-Obstructive Azoospermic Men with Clinical Varicocele: A Systematic Review and Meta-analysis.
The world journal of men's healthRisk of mortality in family members of men seeking fertility assessment.
Fertility and sterilityTestis Molecular Pathways in CAIS Unveil Testosterone/Estradiol on Germ Cell Tumor Risk in Non-Obstructive Azoospermia.
The Journal of clinical endocrinology and metabolismPersistent Mullerian Duct Syndrome in an Adult Infertile Male: A Case Report.
JNMA; journal of the Nepal Medical AssociationCryptozoospermia in the Shadow of Azoospermia: Accurate Diagnosis With Clinical Predictors and Extended Semen Analysis.
UrologyCumulative live birth rates in ICSI treatment for severe oligospermia and azoospermia: How many oocytes do we need?
European journal of obstetrics, gynecology, and reproductive biologyNovel homozygous variants in piRNA pathway factors lead to male infertility in humans.
Reproductive biomedicine onlineAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Infertilidade masculina com azoospermia ou oligozoospermia por mutação em um único gene.
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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.
- A multi-mics exploration of programmed cell death in non-obstructive azoospermia: identifying TLR4 as a central regulator and therapeutic target.
- Self-esteem in crisis: Psychosocial adaptation and masculine identity among Chinese men with azoospermia.
- [Clinical and genetic features of pedigrees with NR5A1 related disorders of sex development].
- Inflammation-induced LncRNA SNHG1 orchestrates spermatogonium development in non-obstructive azoospermia via IL-17 A signaling pathway.
- G-quadruplex structures are key regulators of mammalian spermatogenesis.
- [Clinical and genetic analysis of a patient with FSIP2 compound heterozygous variants causing multiple morphological abnormalities of sperm flagella].
- A cryptozoospermic infertile male with Y chromosome AZFc microdeletion and low FSH levels due to a simultaneous polymorphism in the FSHB gene: a case report.
- AZF microdeletion affects semen parameters, sex hormone levels, and chromosome karyotypes in infertile men in Xinjiang.
- Whole-Exome Sequencing Analysis of Idiopathic Hypogonadotropic Hypogonadism: Comparison of Varicocele and Nonobstructive Azoospermia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:399805(Orphanet)
- MONDO:0018393(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q56014148(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
