Condições congênitas de desenvolvimento sexual atípico associadas a constituições cromossômicas sexuais anormais, incluindo monossomia; trissomia; e mosaicismo.
Introdução
O que você precisa saber de cara
Condições congênitas de desenvolvimento sexual atípico associadas a constituições cromossômicas sexuais anormais, incluindo monossomia; trissomia; e mosaicismo.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 87 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 236 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
1 gene identificado com associação a esta condição.
Transcriptional regulator that controls a genetic switch in male development (PubMed:11563911). It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (PubMed:16414182, PubMed:16996051). Involved in different aspects of gene regulation including promoter activation or repression (PubMed:9525897). Binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3' (PubMed:115639
Nucleus speckleCytoplasmNucleus
46,XY sex reversal 1
A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients manifest rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external genitalia in these subjects are completely female, and Muellerian structures are normal.
Variantes genéticas (ClinVar)
105 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 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 — doença cromossômica sexual do desenvolvimento sexual
Centros de Referência SUS
24 centros habilitados pelo SUS para doença cromossômica sexual do desenvolvimento sexual
Centros para doença cromossômica sexual do desenvolvimento sexual
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
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
Sexing chicken embryos by real-time PCR using primers for the KCMF gene located on the W chromosome.
With the recent publication of several European decrees prohibiting the culling of male chicks of laying breeds, the development of in-ovo sexing methods has become one of the priorities of the laying hen production industry. Regardless of the in-ovo sexing methods used, whether imaging approaches or quantification of specific compounds in embryo-derived samples, the prerequisite for accurate and sensitive in-ovo sexing methods is to establish a correlation between the egg picture and the sex of the embryo. It is therefore essential to know the sex of the embryo and have protocols that are easy to handle and implement, while allowing the analyses of hundreds of samples from a wide variety of tissues and chicken breeds. Among these protocols, real-time polymerase chain reaction using lysed samples containing DNA is likely to be of major interest. A few articles using specific primers, different types of chicken samples and breeds have been published, all with advantages and limitations. Here we describe a new protocol using a pair of primers designed to target a KCMF1-like gene located on the W sex chromosome, while the KCMF1 gene is located on the Z sex chromosome. This pair of primers was tested on four different chicken breeds at day 13 and 14 of development, using various tissues (liver, muscle, feather, heart, gonad, yolk sac, and chorioallantoic membrane) and fluids (blood and allantoic fluid). After 14 days of incubation, the comparison between the phenotype of male or female gonads and the real-time PCR results was 100% consistent, regardless of the breed. Thousands of samples in total have been analyzed by real-time PCR to validate the primers. The protocol is rapid and accurate and can be useful to sex 13 to 14-day old embryos to verify the sex predicted after evaluation of gonad dimorphism, or when the phenotypic sexing is inconclusive.
Fetal developmental trajectories following maternal immune activation are shaped by sex chromosome-gonadal interactions.
Maternal immune activation (MIA) contributes to neurodevelopmental disorders with male-biased prevalence. To disentangle the contributions of sex chromosomes (XX vs. XY) and gonads (ovaries vs. testes) in shaping fetal responses to MIA, we used the four-core genotypes (FCG) mouse model. Offspring representing all combinations of sex chromosome and gonadal status were generated and exposed to poly(I:C) or saline at embryonic day (E)12.5. We assessed maternal serum, fetal placentas, and fetal brain cytokines at E13.5; at E17.5, fetal development was evaluated via microultrasound and CT imaging. MIA induced a robust maternal inflammatory response, elevating IL-6, MCP-1 (CCL2), and TNF-α, which disrupted placental function and fetal development. Compared to all other genotypes, XX gonadal females exhibited a distinct placental proinflammatory signature that appeared largely independent of MIA exposure, along with greater umbilical artery blood flow and relatively little fetal brain inflammation, suggesting a placental buffering effect. In contrast, gonadal males demonstrated greater susceptibility to MIA-related impairments than gonadal females in umbilical artery diameter and blood flow, while XY gonadal females displayed the greatest neural inflammation following MIA. A pilot study using CT imaging suggests concurrent underdevelopment of the fetal thymus, trachea, heart ventricles, and clavicle in MIA-exposed XX gonadal males relative to gonadal females, indicating that the presence of testes/Sry in an XX chromosomal context may exacerbate MIA effects for these structures. These findings reveal that sex chromosomes and gonadal hormones both contribute to fetal resilience to MIA, offering insight into sex-specific developmental trajectories and informing strategies to protect fetal neurodevelopment.
Comparative sequence analysis of the mouse pseudoautosomal region from three inbred strains reveals it to be the most rapidly evolving 'chromosome'.
The pseudoautosomal region (PAR) of mammalian sex chromosomes is a small region of sequence identity shared by the X and Y chromosomes that allows pairing, crossover, recombination, and proper segregation of sex chromosomes. Although the mouse PAR sequence was largely a mystery, we have recently obtained the complete PAR sequences of the C57BL/6J and CAST/EiJ strains. Here, we report the complete PAR sequence of a Japanese wild mouse-derived strain, MSM/Ms, and compare the PARs of the three strains. There are considerable differences in the size of PARs between strains (MSM/Ms PAR is only about 20% the length of C57BL/6J PAR) and numerous amino acid substitution variants were found in the PAR genes. High GC-content exons and short introns are common features of the PAR genes and are likely a consequence of maintaining the functions of the encoded proteins during rapid evolution of the mouse PAR, whose recombination frequency in male meiosis is ∼100 times higher than the autosomal average.
ZSL Orchestrates Synaptonemal Complex Assembly as a Central Region Scaffold to Ensure Synapsis Fidelity and Crossover Control in Polyploid Meiosis.
The synaptonemal complex (SC) is essential for accurate homologous chromosome pairing, recombination, and segregation during meiosis. Although several core SC components have been identified in plants, the molecular mechanism coordinating their assembly remains poorly understood. Here, through a refined temporal transcriptomic analysis of another development in the allotetraploid Brassica napus, this study identifies ZYP1-SCEP1/2 Linker (ZSL) as a central element scaffold that bridges the transverse filament protein ZYP1 with the heterodimeric central element proteins SCEP1/2. It is shown that ZYP1 loading onto chromosomes occurs independently of ZSL and SCEP1/2, whereas ZYP1 is required for their recruitment. Loss of ZSL impedes SCEP1/2 recruitment but not vice versa, and zsl mutants completely lack continuous SC central region assembly, leading to synapsis failure and chromosome mis-segregation. This study further demonstrates that ZSL directly interacts with both ZYP1 and SCEP1/2. These findings define a hierarchical assembly cascade of ZYP1 → ZSL → SCEP1/2 during SC formation. Furthermore, analysis of HEI10 foci and genome-wide crossover (CO) mapping in zsl mutants reveals an ≈100% increase in both male and female COs, accompanied by a loss of interference and elimination of sex-specific CO differences. Together, the results establish ZSL as a key molecular adaptor coordinating SC central region assembly and CO patterning, providing new mechanistic insight into meiotic fidelity and genome stability in polyploid species.
Programmed meiotic errors facilitate dichotomous sperm production in the silkworm, Bombyx mori.
The goal of meiosis is typically to produce haploid gametes (eggs or sperm). Failure to do so is catastrophic for fertility. However, Lepidopteran (moths and butterflies) males produce two sperm morphs: nucleated (eupyrene) sperm and anucleated (apyrene) sperm, both of which are essential for fertilization. The meiotic differences in the two types of spermatogenesis are unclear, and our knowledge of the molecular differences between eupyrene and apyrene spermatogenesis is extremely limited in all systems. The only factor identified as being required for apyrene spermatogenesis is Sex-lethal (Sxl). Here, we show through cytological analysis of meiotic events that there are several key differences in the genesis of apyrene and eupyrene sperm. Specifically, during meiosis I, apyrene spermatocytes fail to decondense and pair their chromosomes during meiotic prophase I. Telomeres fail to localize to the nuclear periphery, and full-length synaptonemal complex does not form. We also find evidence of an abnormal second cell division during apyrene meiosis. RNA sequencing of both eupyrene- and apyrene-producing testes reveals distinct changes in transcriptional programs, including down-regulation of a myriad of cell division genes during apyrene meiosis. By comparing wildtype and Sxl-knockout apyrene testes, we found that Sxl is not required for regulating the expression of the cell division genes but instead may play a role in blocking hormone signaling from altering testis cell identity. Together, our findings reveal significant insights into two converging molecular pathways that promote the formation of dimorphic sperm in Lepidoptera.
Publicações recentes
Shared Origin of Y and Z Chromosomes in the Turnover of XY and ZW Systems in the Frog Glandirana rugosa.
Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development.
Expression atlas of Dmrt genes across sex and development in the mouse brain: functional insights from the olfactory system.
Whole-Genome Resequencing Analysis Reveals Insights into Sex Determination and Gene Loci Associated with Sex Differences in Procambarus clarkii.
Effects of cyp19a1a and cyp19a1b Knockout on Germ Cell Kinetics During Gonadal Sex Differentiation in Medaka.
📚 EuropePMCmostrando 195
Clinical Utility of Prenatal cfDNA Screening for Sex Chromosome Aneuploidies: A Single Center Experience.
Molecular genetics & genomic medicineSexing chicken embryos by real-time PCR using primers for the KCMF gene located on the W chromosome.
Poultry scienceFetal developmental trajectories following maternal immune activation are shaped by sex chromosome-gonadal interactions.
Proceedings of the National Academy of Sciences of the United States of AmericaA Novel Approach Using Microarray Testing as a Screening Method with Clinical Validation Using Whole-Genome Sequencing and Karyotyping for Identifying 46,XX Testicular Differences of Sex Development.
Diagnostics (Basel, Switzerland)Recurrent sex chromosome turnover mediated by distinct ARR17 and PISTILLATA duplications in willows.
Genome biologyComparative sequence analysis of the mouse pseudoautosomal region from three inbred strains reveals it to be the most rapidly evolving 'chromosome'.
Proceedings of the Japan Academy. Series B, Physical and biological sciences[Genetic analysis of a phenotypically normal male with SRY gene-positive 46,XX/46,XY tetrameric chimerism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsReproductive potential in mosaic Turner syndrome: impact of karyotype pattern and mosaicism ratio.
Climacteric : the journal of the International Menopause SocietySex Differences in Metabolite-Immune Circuits of Neuroinflammation.
Immunological reviewsGenetic analysis of triplicated genes affecting sex-specific skeletal deficits in Down syndrome model mice.
G3 (Bethesda, Md.)The intersection of disorders of sex development and cardiovascular diseases.
Biology of sex differencesZSL Orchestrates Synaptonemal Complex Assembly as a Central Region Scaffold to Ensure Synapsis Fidelity and Crossover Control in Polyploid Meiosis.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)In which cases of proximal hypospadias detailed investigations are necessary.
Pediatric surgery internationalSex Differences in Cancer Immunotherapy-Clinical Evidence and Mechanisms With a Focus on NSCLC.
Immunological reviewsPostnatal conversion of methylcytosine to hydroxymethylcytosine reconfigures the human neuronal epigenome.
bioRxiv : the preprint server for biologySeeking Novel Personalized and Sex-Specific Strategies for the Prevention and Treatment of Heart Failure Based on the Assessment of β1-Adrenergic Receptor Desensitization: The Contribution to the HEAL ITALIA Project.
Current issues in molecular biologyShared Origin of Y and Z Chromosomes in the Turnover of XY and ZW Systems in the Frog Glandirana rugosa.
BiomoleculesExploring Sex-Based Mechanisms of Inflammation and Neurodegeneration in Multiple Sclerosis.
Biological research for nursingProgrammed meiotic errors facilitate dichotomous sperm production in the silkworm, Bombyx mori.
Proceedings of the National Academy of Sciences of the United States of AmericaRelationship between X chromosome mosaicism, neuroanatomy and cognitive performance in females.
bioRxiv : the preprint server for biologySry-modified laboratory rat lines to study sex-chromosome effects underlying sex differences in physiology and disease: four core genotypes and more.
Biology of sex differencesSex chromosome-dependent epigenetic regulation underlies sex-specific H4 acetylation at the aromatase promoter in the developing mouse amygdala.
Biology of sex differencesMale-biased Cyp17a2 orchestrates antiviral sexual dimorphism in fish via STING stabilization and viral protein degradation.
eLifeY chromosome-linked EIF1AY deletion drives sex differences in multiple myeloma.
NPJ precision oncologyChromosome X-wide association study in multiple system atrophy identifies sex-differential risk loci.
Brain : a journal of neurologyOverexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development.
Biology of sex differencesSex chromosomes and gonadal sex interactions in airway and immune responses to allergen challenge.
American journal of physiology. Lung cellular and molecular physiologyExpression atlas of Dmrt genes across sex and development in the mouse brain: functional insights from the olfactory system.
Biology of sex differencesMonoallelic knockout of r2d2 affects the antiviral RNAi response to Mayaro virus and the reproductive potential in Aedes aegypti.
Parasites & vectorsSex differences in hepatic enzymes and transporters involved in pharmacokinetics.
Liver research (Beijing, China)X-inactive specific transcript (XIST) can determine sex differences in cardiovascular drug responses: focus on RNA therapeutics.
Frontiers in pharmacologyWhole-Genome Resequencing Analysis Reveals Insights into Sex Determination and Gene Loci Associated with Sex Differences in Procambarus clarkii.
International journal of molecular sciencesComparative Chromosomal Analysis of the Z Chromosome in South American Bird Species Shows a High Rate of Intrachromosomal Rearrangements.
GenesAt the Crossroads of Continents: Ancient DNA Insights into the Maternal and Paternal Population History of Croatia.
GenesIntegrative microRNA and transcriptome analysis reveals sex-specific molecular divergence in human bladder cancer.
Biology of sex differencesThe X Factor in Immunity: Sex Differences Shaped by the X Chromosome.
Immunological reviewsSex matters: mechanistic insights into sex-driven patterns of autoimmunity and implications for pharmacotherapy.
Naunyn-Schmiedeberg's archives of pharmacologyGenetic, endocrine and epigenetic mechanisms underlying sexual size dimorphism in fish.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationGWAS-assisted genomic selection for achieving high-precision early sex prediction in Populus deltoides.
The plant genomeGonadal and sex chromosomal contributions to sex differences in mammalian brain organization.
bioRxiv : the preprint server for biologyStandardized multidisciplinary care for children and adolescents with differences of sex development: a health intelligence approach.
The journal of sexual medicineEffects of cyp19a1a and cyp19a1b Knockout on Germ Cell Kinetics During Gonadal Sex Differentiation in Medaka.
Development, growth & differentiationSynteny-based comparative pan-genome reveals a male-specific FT gene underlying flowering time dimorphism in kiwifruit.
The Plant journal : for cell and molecular biologyComparative RNA-Seq Analysis of Differentially Expressed Genes in the Testis and Ovary of Mudskipper, Boleophthalmus pectinirostris.
Animals : an open access journal from MDPIIntegrated fetal testicular transcriptomic and epigenomic profiles during maternal nutrient restriction with dietary melatonin intervention.
Journal of animal scienceRapid and repeated evolution of myosin copy number in threespine stickleback.
bioRxiv : the preprint server for biologyStudy of Methods for Early Fetal Sex Identification Using Cell-Free Fetal DNA in the Peripheral Blood of Pregnant Cows.
Reproduction in domestic animals = ZuchthygieneMachine-learning-based determination of sex-related bladder cancer biomarkers.
bioRxiv : the preprint server for biologyEvolution of Z chromosome in Ostrinia furnacalis: dosage compensation, sex-biased gene expression and evolutionary rate of Z-linked genes.
Pest management scienceQuantitative dissection of sexual dimorphism in mice through Y-linked gene knockouts and multivariate phenotyping.
Scientific reportsPersistence of an unusual triple sex chromosome system through allopolyploidization in African clawed frogs (Xenopus, subgenus Silurana).
Evolution; international journal of organic evolutionIntersex community perspectives on prenatal sex chromosome screening: "It silences intersex".
Journal of genetic counselingDoes a Father's Social Environment Influence Their Sons' Sperm Sex Ratio? Potential for the Epigenetic Transmission of a Sex-Allocating Mechanism.
Ecology and evolutionThe importance of sex dimorphism in liver metabolism and progressive liver diseases.
Biology of sex differencesCommentary: evidence that sexually antagonistic male coloration factors are clustered in a rarely recombining region near the guppy male-determining locus.
Evolution; international journal of organic evolutionX chromosome dosage in respiratory stem cells is critical for post-embryonic development and survival.
Current biology : CBAnalysis of AZF microdeletion, chromosome karyotypes, and sex hormone levels in 3060 male infertility: A retrospective study in Ningxia of China.
MedicineRelative contribution of gonads and sex chromosomes to sex differences in cell-type gene expression in the mouse medial septum and sex-biased disease risk.
bioRxiv : the preprint server for biologyGenetic Background and Sex Modulate Androgen Responses in Human Brain Microphysiological System.
bioRxiv : the preprint server for biologySex chromosome dosage compensation in a sex reversing skink is not influenced by sexual phenotype.
BMC genomicsSex ratios in flux: seasonal dynamics and methodological insights in Rumex species.
PeerJDifferential DNA Methylation of the Brain-Derived Neurotrophic Factor Gene is Observed after Pediatric Traumatic Brain Injury Compared with Orthopedic Injury.
Journal of neurotraumaSex-biased gene expression in the northern pipefish (Syngnathus fuscus), a species with male pregnancy, is widespread and linked to tissue specificity.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationTwo Cases of MYRF-Related Differences of Sex Development: A Wide Phenotypic Spectrum.
JCEM case reportsCross-Species Validation of Pigeon-Specific CHD1 Primers for Molecular Sexing in Pet Birds.
International journal of molecular sciences[Association between Y chromosome microdeletions and tes-ticular development in male pediatric patients with congenital reproductive system diseases].
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesSLiM 5: Eco-evolutionary Simulations Across Multiple Chromosomes and Full Genomes.
Molecular biology and evolutionFunctional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.
The Journal of clinical investigationA non-invasive method to genotype cephalopod sex by quantitative PCR.
bioRxiv : the preprint server for biologyChromosomal and hormonal factors involved in human sexual dimorphism.
Endocrine journalChromosomal influence on variation in the timing of diapause termination in Cydia pomonella.
Journal of insect physiologyFunctional Divergence between the Z and W Alleles of the <italic>UBAP2</italic> Gene Revealed by Differences in Their Expression Patterns in Japanese Quail.
Cytogenetic and genome researchHeterozygosity at a conserved candidate sex determination locus is associated with female development in the clonal raider ant (Ooceraea biroi).
eLifeA Y-linked duplication of anti-Mullerian hormone is the sex determination gene in threespine stickleback.
PLoS geneticsGenetic mapping in the red mason bee implicates ANTSR as an ancient sex-determining locus in bees and ants.
PLoS biologySex-specific associations of gene expression with Alzheimer's disease neuropathology and ante-mortem cognitive performance.
Nature communicationsSex-Linked Differentiation in Commercially Exploited Fishes: Rethinking Population Structure in Dynamic Marine Environments.
Global change biologyElevated Testosterone Is Required for Male Sexual Behaviour and Dynamic Colour Change in Veiled Chameleons.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationEstablishment of sex-specific liver transcriptomes and H3K9me3 profiles during sexual maturity: the impact of maternal obesity.
Biology of sex differencesComplete genome assemblies of two mouse subspecies reveal structural diversity of telomeres and centromeres.
Nature geneticsSex differences in systemic sclerosis: from pathogenesis to clinical manifestations and treatment.
Therapeutic advances in musculoskeletal diseaseA human induced pluripotent stem cell toolbox for studying sex chromosome effects.
Stem cell reportsExploring the Association between Prenatal Growth and Differences in Sexual Development in Newborns.
Hormone research in paediatricsEpigenetic landscape of hormone-independent sexual dimorphism and characterization of canine XIST.
Scientific reportsIsodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis.
Molecular cytogeneticsEpigenetic Clock Analysis of Sex Chromosome Aneuploidies.
Aging cellSex Disparities in Obesity: A Comprehensive Review of Hormonal and Genetic Influences on Obesity-Related Phenotypes.
Obesity reviews : an official journal of the International Association for the Study of ObesityFractionation of sex differences in human cortical anatomy.
bioRxiv : the preprint server for biologyamh alleles on XY sex chromosomes regulate male differentiation in amphidiploid Carassius auratus.
Science China. Life sciencesLong non-coding RNA PWRN4 associated with post-SVR hepatocellular carcinoma: a genome-wide association study.
Biomarker researchAn integrated multi-omic natural history study of human development, sexual dimorphism, and the effects of trisomy 21.
Nature communicationsFertility of high-producing multiparous lactating dairy cows inseminated with fresh or frozen sex-sorted Y-chromosome bearing semen from Angus bulls.
TheriogenologyAndrogen receptor signaling as a new target for intervention in acute myeloid leukemia.
Blood advancesOutcomes of pregnancies that screened positive for sex chromosome aneuploidy ascertained via cell-free DNA screening.
Journal of genetic counselingMorphological Sex Reversal in the Sexually Dimorphic Nucleus of the Preoptic Area in the Hypothalamus Delineated by Calbindin D28k-Immunoreactive Cell Clusters in Y POS mice.
Acta histochemica et cytochemicaMeiotic Sex Chromosome Inactivation: Conservation across the Drosophila genus.
PLoS geneticsA Quantitative Polymerase Chain Reaction Protocol for Sex Identification of Zebra Finch and Chicken Using Blood Samples.
bioRxiv : the preprint server for biologyThe gender-sensitive spectrum of neurodevelopmental disorders: a case report on a ZMYM3 variant in a 19-year-old female.
Frontiers in psychiatryCharacterization of <italic>DMRT1</italic> Variants for Testis Determination and Differentiation in Emu.
Cytogenetic and genome researchInfluence of Gonadal and Chromosomal Sex on the Brain Transcriptome in a Mouse Species with Natural Sex Reversal.
Molecular biology and evolutionAssociation of FOXP3 rs3761548 With Cancer: Systematic Review and Two Approaches of X-chromosome Genotypic Meta-analysis.
Cancer genomics & proteomicsAutosomally-encoded segregation distortion of sex chromosomes.
Proceedings. Biological sciencesSex-biased transcriptome in in vitro produced bovine early embryos.
Cell & bioscienceMutation of MeCP2 at T158M Leads to Distinct Molecular and Phenotypic Abnormalities in Male and Female Mice.
CellsConvergent evolution of sex chromosomes in two palm species, Phoenix dactylifera and Kerriodoxa elegans.
Annals of botanyOrigin and evolutionary trajectories of brown algal sex chromosomes.
Nature ecology & evolutionA simple and reliable PCR-based method to differentiate between XX and XY sex genotypes in Cannabis sativa.
PlantaHistone Demethylation Activity of UTX Contributes to the Regulation of Steroid Biosynthesis Genes in Embryonic Gonads but Is Dispensable for Gonadal Sex Determination.
Development, growth & differentiationEffects of temperature and nutrition stress on Anopheles stephensi, an Indian urban malaria vector.
Malaria journalHeterogametic Females Reveal a ZW Sex Determination System and a Putative Sex Chromosome for the Chilean Jack Mackerel, Trachurus murphyi.
Molecular ecology resourcesAssociation between repeat number polymorphisms of sex hormone-related genes and gender phenotype variations in university students.
Sexual medicineIdentification and expression analysis of sex-related genes in the pine wood nematode insect vector Monochamus saltuarius (Coleoptera: Cerambycidae).
International journal of biological macromoleculesNautilus sex determination is unique among cephalopods.
Current biology : CBUnderstanding Sex Differences in Autoimmune Diseases: Immunologic Mechanisms.
International journal of molecular sciences[Effect of Y chromosome microdeletion on pregnancy outcome of intracytoplasmic sperm injection].
Zhonghua nan ke xue = National journal of andrologyAn X-linked sex determination mechanism in cannabis and hop.
bioRxiv : the preprint server for biologyCase Report: De novo DHX37 mutations in Saudi patients with 46,XY differences of sex development.
Frontiers in endocrinologyThe sex-chromosomes related cellular dimorphism in physiology and pathology.
Molecular and cellular endocrinologyDifferences of sex development.
Nature reviews. Disease primersDifferences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center.
Children (Basel, Switzerland)Analysis of sex-differential gene expression on the target of approved drug.
Scientific reportsMultiple Origins of Sex Chromosomes in Nothobranchius Killifishes.
Molecular ecologyElevated autistic traits and social anxiety, and reduced empathy in adult women with triple X syndrome.
Journal of neurodevelopmental disordersChromosome-level Assembly of the Genome of Mesocentrotus nudus Reveals a Sex-Linked Region on Chromosome 7.
Marine biotechnology (New York, N.Y.)Deciphering gonadal transcriptome reveals circRNA-miRNA-mRNA regulatory network involved in sex differentiation and gametogenesis of Apostichopus japonicus.
Molecular genetics and genomics : MGGSex-biased microRNA expression in the developing mouse brain: Multiple mechanisms driving its origin.
GeneMental Health Diagnoses Associated With Sex Chromosome Anomalies.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsLight and sex modify Snord116 genotype effects on metabolism, behavior, and imprinted gene networks following circadian entrainment.
bioRxiv : the preprint server for biologyKaryotypic analysis of 62,587 Han Chinese infertile couples undergoing assisted reproductive technology treatments: insights into chromosomal variations.
BMC genomicsMalignancy Risk in Turner Syndrome+Y, Early Gonadectomy, and the Ethics of Parental Choices.
PediatricsSexual Antagonism and Sex Determination in Three Syngnathid Species Alongside a Male Pregnancy Gradient.
Genome biology and evolutionSex-biased expression of sex-linked transcripts in spiny frogs with homomorphic sex chromosomes.
BMC genomicsMolecular mechanisms of sex determination in Lepidoptera: current status and perspectives.
Insect sciencePrevalence of Differences of Sex Development Among Pediatric Endocrine Care Centers in Switzerland From 2000 to 2019.
Journal of the Endocrine SocietyThe genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
BMC medicineSex chromosome gene expression associated with vocal learning following hormonal manipulation in female zebra finches.
eLifeDifferential DNA Methylation of the Brain-Derived Neurotrophic Factor Gene is Observed after Pediatric Traumatic Brain Injury Compared to Orthopedic Injury.
medRxiv : the preprint server for health sciencesSatellite DNA Mapping in Suliformes (Aves): Insights into the Evolution of the Multiple Sex Chromosome System in Sula spp.
GenesExtensive Recombination Suppression and Genetic Degeneration of a Young ZW Sex Chromosome System in Halfbeak Fish.
Molecular biology and evolutionNlAgo3 and NlBiwi are essential for piRNAs biogenesis and female reproduction in Nilaparvata lugens.
Insect biochemistry and molecular biologyGenotype Identification of Complete Hydatidiform Moles without a Maternal Component: Attempts at a Novel 26-plex STR System.
Current medical scienceEvolution and functioning of an X-A balance sex-determining system in hops.
Nature plantsThe Impact of an Extra Chromosome on Language: Developmental Language Disorder in Sex Chromosome Trisomies.
Journal of speech, language, and hearing research : JSLHRFaster adaptation but slower divergence of X chromosomes under paternal genome elimination.
Nature communicationsContrasting Evolutionary Trajectories Under Paternal Genome Elimination in Male and Female Citrus Mealybugs.
Molecular ecologyUncovering the mechanisms of sexual differentiation: insights from Drosophila research.
Comptes rendus biologiesMaternal Age-Related Gender Bias in Trisomy 21 and Trisomy 18.
Birth defects researchMeiosis in Hybrids: Looking for the Order in Disorder.
Cytogenetic and genome researchSex steroid profiles align with phenotype in sex-reversed female lizards.
General and comparative endocrinologySpatial ability, episodic memory, and emotion recognition in women with congenital adrenal hyperplasia or complete androgen insensitivity syndrome.
Hormones and behaviorA novel sex-associated genomic region in Catostomus fish species.
The Journal of heredityArtificial Induction of Meiotic Gynogenesis in Koi Carp Using Blunt Snout Bream Sperm and Identification of Gynogenetic Offspring.
Animals : an open access journal from MDPIAMHY and sex determination in egg-laying mammals.
Genome biologyEarly establishment and life course stability of sex biases in the human brain transcriptome.
Cell genomicsSurvey of tocopherol and the associated genetic loci in wheat grain.
TAG. Theoretical and applied genetics. Theoretische und angewandte GenetikSex-chromosome complement and Activin-A shape the therapeutic potential of TNFR2 activation in a model of MS and CNP.
Proceedings of the National Academy of Sciences of the United States of AmericaSex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3X.
Nature communicationsDivergent DNA methylation dynamics in marsupial and eutherian embryos.
NatureExploring Tissue- and Sex-Specific DNA Methylation in Cattle Using a Pan-Mammalian Infinium Array.
International journal of molecular sciencesThe role of sex differences in cardiovascular, metabolic, and immune functions in health and disease: a review for "Sex Differences in Health Awareness Day".
Biology of sex differencesEffect of heterozygous deletions on phenotypic changes and dosage compensation in Arabidopsis thaliana.
Scientific reportsVariation in adult sex ratios in tetrapods is linked to sex chromosomes through mortality differences between males and females.
PLoS biologyRare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.
EBioMedicineThe fourspine stickleback (Apeltes quadracus) has an XY sex chromosome system with polymorphic inversions on both X and Y chromosomes.
PLoS geneticsGenome content reorganization in the non-model ciliate Chilodonella uncinata: insights into nuclear architecture, DNA content, and chromosome fragmentation during macronuclear development.
mSphereIn-depth investigation of genome to refine QTL positions for spontaneous sex-reversal in XX rainbow trout.
PloS oneSex-specific DNA methylation signatures of autism spectrum disorder from whole genome bisulfite sequencing of newborn blood.
Biology of sex differencesSocial communication skills profile in infants with sex chromosome trisomy at 12 months of age.
Infant behavior & developmentRoles of chromosomal and gonadal sex in the fetal and placental responses to maternal food restriction in mice.
Molecular human reproductionTranscriptomic sex differences in early human fetal brain development.
Communications biologySex determination in moths and butterflies: Masculinizer as key player.
Current opinion in insect scienceGermline mutation rates and fine-scale recombination parameters in zebra finch.
PLoS geneticsSexually dimorphic gene expression responses of bovine embryos to the maternal microenvironment on day 13 of gestation.
BMC genomicsExploratory analysis of differences at the transcriptional interface between the maternal and fetal compartments of the sheep placenta and potential influence of fetal sex.
Molecular and cellular endocrinologyArtifacts, Not Differences in Sex Development, Are the Predominant Cause of Phenotypic Sex Discordance With Prenatal Cell-Free DNA Screening: A Review of 33 Cases.
Prenatal diagnosisWho may compete in the female category in sport? Chromosomes, genes, hormones, and psychosocial/cultural aspects.
Current opinion in pediatricsBrain structure in triple X syndrome: regional gray matter volume and cortical thickness in adult women with 47,XXX karyotype.
Journal of neurodevelopmental disordersCan Individuals with 47,XYY Karyotypes Exist without Male Phenotype? A Narrative Literature Review and Case Report.
Frontiers in bioscience (Scholar edition)Optimizing Y-chromosome microdeletion screening in Chinese male infertility patients: a large-scale multi-centre study on incidence.
Human reproduction (Oxford, England)Whole-genome bisulfite sequencing of X and Y sperm in Holstein bulls reveals differences in autosomal methylation status.
BMC genomicsResearch progress on estrogen and estrogen receptors in the occurrence and progression of autoimmune thyroid diseases.
Autoimmunity reviewsEstrogen influences class-switched memory B cell frequency only in humans with two X chromosomes.
The Journal of experimental medicineA Novel SRD5A2 Loss-of-Function Variant in a Chinese Child with 5α-Reductase type 2 Deficiency.
Journal of clinical research in pediatric endocrinologyBreaking rules: the complex relationship between DNA methylation and X-chromosome inactivation in the human placenta.
Biology of sex differencesStrategies for studying sex differences in brain aging.
Trends in genetics : TIGX-chromosome-linked miR-542-5p as a key regulator of sex disparity in rats with adjuvant-induced arthritis by promoting Th17 differentiation.
Biomarker researchFunctional Study of Four Histone Genes Involved in the Spermatogenesis of Cynoglossus semilaevis.
Animals : an open access journal from MDPIRepetitive DNA Mapping Reveals Multiple Sex Chromosomes X1X1X2X2/X1X2Y in Pseudotylosurus microps (Günther 1866) (Beloniformes, Teleostei) from the Amazon.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationSources of behavioral variability in C. elegans: Sex differences, individuality, and internal states.
Current opinion in neurobiologyThe origin, evolution, and translocation of sex chromosomes in Silurus catfish mediated by transposons.
BMC biologyChromosomal and gonadal sex have differing effects on social motivation in mice.
Biology of sex differencesFactors, pregnancy outcomes, and management associated with non-reportable results in prenatal cell-free DNA testing.
Archives of gynecology and obstetricsInvestigation of sex determination in African cichlids reveals lack of fixed sex chromosomes in wild populations.
Journal of evolutionary biologyUnveiling sex-disparities and the impact of gender-affirming hormone therapy on periodontal health.
Frontiers in dental medicineDose-dependent role of AMH and AMHR2 signaling in male differentiation and regulation of sex determination in Spotted knifejaw (Oplegnathus punctatus) with X1X1X2X2/X1X2Y chromosome system.
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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.
- Sexing chicken embryos by real-time PCR using primers for the KCMF gene located on the W chromosome.
- Fetal developmental trajectories following maternal immune activation are shaped by sex chromosome-gonadal interactions.Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41849388mais citado
- Comparative sequence analysis of the mouse pseudoautosomal region from three inbred strains reveals it to be the most rapidly evolving 'chromosome'.Proceedings of the Japan Academy. Series B, Physical and biological sciences· 2026· PMID 41813157mais citado
- ZSL Orchestrates Synaptonemal Complex Assembly as a Central Region Scaffold to Ensure Synapsis Fidelity and Crossover Control in Polyploid Meiosis.
- Programmed meiotic errors facilitate dichotomous sperm production in the silkworm, Bombyx mori.Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41739555mais citado
- Shared Origin of Y and Z Chromosomes in the Turnover of XY and ZW Systems in the Frog Glandirana rugosa.
- Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development.
- Expression atlas of Dmrt genes across sex and development in the mouse brain: functional insights from the olfactory system.
- Whole-Genome Resequencing Analysis Reveals Insights into Sex Determination and Gene Loci Associated with Sex Differences in Procambarus clarkii.
- Effects of cyp19a1a and cyp19a1b Knockout on Germ Cell Kinetics During Gonadal Sex Differentiation in Medaka.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:325546(Orphanet)
- MONDO:0017975(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q54943934(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
