Raras
Buscar doenças, sintomas, genes...
doença cromossômica sexual do desenvolvimento sexual
ORPHA:325546DOENÇA RARA

Condições congênitas de desenvolvimento sexual atípico associadas a constituições cromossômicas sexuais anormais, incluindo monossomia; trissomia; e mosaicismo.

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Introdução

O que você precisa saber de cara

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Condições congênitas de desenvolvimento sexual atípico associadas a constituições cromossômicas sexuais anormais, incluindo monossomia; trissomia; e mosaicismo.

🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +10
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
27 sintomas
📏
Crescimento
22 sintomas
🧠
Neurológico
19 sintomas
😀
Face
18 sintomas
🫃
Digestivo
12 sintomas
❤️
Coração
10 sintomas

+ 87 sintomas em outras categorias

Características mais comuns

Micrognatia
Disgenesia gonadal
Holoprosencefalia
Formato facial anormal
Esquizofrenia
Luxação do quadril
236sintomas
Sem dados (236)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 236 características clínicas mais associadas, ordenadas por frequência.

MicrognatiaMicrognathia
Disgenesia gonadalGonadal dysgenesis
HoloprosencefaliaHoloprosencephaly
Formato facial anormalAbnormal facial shape
EsquizofreniaSchizophrenia

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa2
Últimos 10 anos200publicações
Pico2025141 papers
Linha do tempo
2024Hoje · 2026🧪 2001Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição.

SRYSex-determining region Y proteinCandidate gene tested inDesconhecido
FUNÇÃO

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

LOCALIZAÇÃO

Nucleus speckleCytoplasmNucleus

VIAS BIOLÓGICAS (2)
Deactivation of the beta-catenin transactivating complexTranscriptional regulation of testis differentiation
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Baixa expressão)
Testículo
4.5 TPM
Skin Sun Exposed Lower leg
3.4 TPM
Skin Not Sun Exposed Suprapubic
3.1 TPM
Fibroblastos
1.6 TPM
Esôfago - Mucosa
0.8 TPM
OUTRAS DOENÇAS (6)
46,XY sex reversal 145,X/46,XY mixed gonadal dysgenesis46,XY complete gonadal dysgenesis46,XX ovotesticular disorder of sex development
HGNC:11311UniProt:Q05066

Variantes genéticas (ClinVar)

105 variantes patogênicas registradas no ClinVar.

🧬 SRY: NM_003140.3(SRY):c.301C>T (p.Leu101Phe) ()
🧬 SRY: NM_003140.3(SRY):c.188C>T (p.Pro63Leu) ()
🧬 SRY: NM_003140.3(SRY):c.338C>A (p.Ala113Glu) ()
🧬 SRY: GRCh37/hg19 Yp11.31-11.2(chrY:2650140-9542707)x0 ()
🧬 SRY: NM_003140.3(SRY):c.71A>T (p.Asn24Ile) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Sexing chicken embryos by real-time PCR using primers for the KCMF gene located on the W chromosome.

Poultry science2026 Feb 26

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.

#2

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 America2026 Mar 24

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.

#3

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 sciences2026

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.

#4

ZSL 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)2026 Mar 04

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.

#5

Programmed meiotic errors facilitate dichotomous sperm production in the silkworm, Bombyx mori.

Proceedings of the National Academy of Sciences of the United States of America2026 Mar 03

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

Ver todas no PubMed

📚 EuropePMCmostrando 195

2026

Clinical Utility of Prenatal cfDNA Screening for Sex Chromosome Aneuploidies: A Single Center Experience.

Molecular genetics & genomic medicine
2026

Sexing chicken embryos by real-time PCR using primers for the KCMF gene located on the W chromosome.

Poultry science
2026

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

A 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)
2026

Recurrent sex chromosome turnover mediated by distinct ARR17 and PISTILLATA duplications in willows.

Genome biology
2026

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
2025

[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 genetics
2026

Reproductive potential in mosaic Turner syndrome: impact of karyotype pattern and mosaicism ratio.

Climacteric : the journal of the International Menopause Society
2026

Sex Differences in Metabolite-Immune Circuits of Neuroinflammation.

Immunological reviews
2026

Genetic analysis of triplicated genes affecting sex-specific skeletal deficits in Down syndrome model mice.

G3 (Bethesda, Md.)
2026

The intersection of disorders of sex development and cardiovascular diseases.

Biology of sex differences
2026

ZSL 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)
2026

In which cases of proximal hypospadias detailed investigations are necessary.

Pediatric surgery international
2026

Sex Differences in Cancer Immunotherapy-Clinical Evidence and Mechanisms With a Focus on NSCLC.

Immunological reviews
2026

Postnatal conversion of methylcytosine to hydroxymethylcytosine reconfigures the human neuronal epigenome.

bioRxiv : the preprint server for biology
2026

Seeking 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 biology
2026

Shared Origin of Y and Z Chromosomes in the Turnover of XY and ZW Systems in the Frog Glandirana rugosa.

Biomolecules
2026

Exploring Sex-Based Mechanisms of Inflammation and Neurodegeneration in Multiple Sclerosis.

Biological research for nursing
2026

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

Relationship between X chromosome mosaicism, neuroanatomy and cognitive performance in females.

bioRxiv : the preprint server for biology
2026

Sry-modified laboratory rat lines to study sex-chromosome effects underlying sex differences in physiology and disease: four core genotypes and more.

Biology of sex differences
2026

Sex chromosome-dependent epigenetic regulation underlies sex-specific H4 acetylation at the aromatase promoter in the developing mouse amygdala.

Biology of sex differences
2026

Male-biased Cyp17a2 orchestrates antiviral sexual dimorphism in fish via STING stabilization and viral protein degradation.

eLife
2026

Y chromosome-linked EIF1AY deletion drives sex differences in multiple myeloma.

NPJ precision oncology
2026

Chromosome X-wide association study in multiple system atrophy identifies sex-differential risk loci.

Brain : a journal of neurology
2026

Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development.

Biology of sex differences
2026

Sex chromosomes and gonadal sex interactions in airway and immune responses to allergen challenge.

American journal of physiology. Lung cellular and molecular physiology
2026

Expression atlas of Dmrt genes across sex and development in the mouse brain: functional insights from the olfactory system.

Biology of sex differences
2026

Monoallelic knockout of r2d2 affects the antiviral RNAi response to Mayaro virus and the reproductive potential in Aedes aegypti.

Parasites & vectors
2025

Sex differences in hepatic enzymes and transporters involved in pharmacokinetics.

Liver research (Beijing, China)
2025

X-inactive specific transcript (XIST) can determine sex differences in cardiovascular drug responses: focus on RNA therapeutics.

Frontiers in pharmacology
2026

Whole-Genome Resequencing Analysis Reveals Insights into Sex Determination and Gene Loci Associated with Sex Differences in Procambarus clarkii.

International journal of molecular sciences
2026

Comparative Chromosomal Analysis of the Z Chromosome in South American Bird Species Shows a High Rate of Intrachromosomal Rearrangements.

Genes
2026

At the Crossroads of Continents: Ancient DNA Insights into the Maternal and Paternal Population History of Croatia.

Genes
2026

Integrative microRNA and transcriptome analysis reveals sex-specific molecular divergence in human bladder cancer.

Biology of sex differences
2026

The X Factor in Immunity: Sex Differences Shaped by the X Chromosome.

Immunological reviews
2026

Sex matters: mechanistic insights into sex-driven patterns of autoimmunity and implications for pharmacotherapy.

Naunyn-Schmiedeberg's archives of pharmacology
2026

Genetic, endocrine and epigenetic mechanisms underlying sexual size dimorphism in fish.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2026

GWAS-assisted genomic selection for achieving high-precision early sex prediction in Populus deltoides.

The plant genome
2026

Gonadal and sex chromosomal contributions to sex differences in mammalian brain organization.

bioRxiv : the preprint server for biology
2026

Standardized multidisciplinary care for children and adolescents with differences of sex development: a health intelligence approach.

The journal of sexual medicine
2026

Effects of cyp19a1a and cyp19a1b Knockout on Germ Cell Kinetics During Gonadal Sex Differentiation in Medaka.

Development, growth & differentiation
2026

Synteny-based comparative pan-genome reveals a male-specific FT gene underlying flowering time dimorphism in kiwifruit.

The Plant journal : for cell and molecular biology
2026

Comparative RNA-Seq Analysis of Differentially Expressed Genes in the Testis and Ovary of Mudskipper, Boleophthalmus pectinirostris.

Animals : an open access journal from MDPI
2026

Integrated fetal testicular transcriptomic and epigenomic profiles during maternal nutrient restriction with dietary melatonin intervention.

Journal of animal science
2025

Rapid and repeated evolution of myosin copy number in threespine stickleback.

bioRxiv : the preprint server for biology
2026

Study of Methods for Early Fetal Sex Identification Using Cell-Free Fetal DNA in the Peripheral Blood of Pregnant Cows.

Reproduction in domestic animals = Zuchthygiene
2025

Machine-learning-based determination of sex-related bladder cancer biomarkers.

bioRxiv : the preprint server for biology
2026

Evolution of Z chromosome in Ostrinia furnacalis: dosage compensation, sex-biased gene expression and evolutionary rate of Z-linked genes.

Pest management science
2026

Quantitative dissection of sexual dimorphism in mice through Y-linked gene knockouts and multivariate phenotyping.

Scientific reports
2026

Persistence of an unusual triple sex chromosome system through allopolyploidization in African clawed frogs (Xenopus, subgenus Silurana).

Evolution; international journal of organic evolution
2026

Intersex community perspectives on prenatal sex chromosome screening: "It silences intersex".

Journal of genetic counseling
2025

Does a Father's Social Environment Influence Their Sons' Sperm Sex Ratio? Potential for the Epigenetic Transmission of a Sex-Allocating Mechanism.

Ecology and evolution
2025

The importance of sex dimorphism in liver metabolism and progressive liver diseases.

Biology of sex differences
2026

Commentary: 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 evolution
2026

X chromosome dosage in respiratory stem cells is critical for post-embryonic development and survival.

Current biology : CB
2025

Analysis of AZF microdeletion, chromosome karyotypes, and sex hormone levels in 3060 male infertility: A retrospective study in Ningxia of China.

Medicine
2025

Relative 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 biology
2025

Genetic Background and Sex Modulate Androgen Responses in Human Brain Microphysiological System.

bioRxiv : the preprint server for biology
2025

Sex chromosome dosage compensation in a sex reversing skink is not influenced by sexual phenotype.

BMC genomics
2025

Sex ratios in flux: seasonal dynamics and methodological insights in Rumex species.

PeerJ
2025

Differential DNA Methylation of the Brain-Derived Neurotrophic Factor Gene is Observed after Pediatric Traumatic Brain Injury Compared with Orthopedic Injury.

Journal of neurotrauma
2025

Sex-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 differentiation
2026

Two Cases of MYRF-Related Differences of Sex Development: A Wide Phenotypic Spectrum.

JCEM case reports
2025

Cross-Species Validation of Pigeon-Specific CHD1 Primers for Molecular Sexing in Pet Birds.

International journal of molecular sciences
2025

[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 sciences
2026

SLiM 5: Eco-evolutionary Simulations Across Multiple Chromosomes and Full Genomes.

Molecular biology and evolution
2026

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.

The Journal of clinical investigation
2025

A non-invasive method to genotype cephalopod sex by quantitative PCR.

bioRxiv : the preprint server for biology
2026

Chromosomal and hormonal factors involved in human sexual dimorphism.

Endocrine journal
2025

Chromosomal influence on variation in the timing of diapause termination in Cydia pomonella.

Journal of insect physiology
2025

Functional 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 research
2025

Heterozygosity at a conserved candidate sex determination locus is associated with female development in the clonal raider ant (Ooceraea biroi).

eLife
2025

A Y-linked duplication of anti-Mullerian hormone is the sex determination gene in threespine stickleback.

PLoS genetics
2025

Genetic mapping in the red mason bee implicates ANTSR as an ancient sex-determining locus in bees and ants.

PLoS biology
2025

Sex-specific associations of gene expression with Alzheimer's disease neuropathology and ante-mortem cognitive performance.

Nature communications
2025

Sex-Linked Differentiation in Commercially Exploited Fishes: Rethinking Population Structure in Dynamic Marine Environments.

Global change biology
2025

Elevated 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 differentiation
2025

Establishment of sex-specific liver transcriptomes and H3K9me3 profiles during sexual maturity: the impact of maternal obesity.

Biology of sex differences
2025

Complete genome assemblies of two mouse subspecies reveal structural diversity of telomeres and centromeres.

Nature genetics
2025

Sex differences in systemic sclerosis: from pathogenesis to clinical manifestations and treatment.

Therapeutic advances in musculoskeletal disease
2025

A human induced pluripotent stem cell toolbox for studying sex chromosome effects.

Stem cell reports
2025

Exploring the Association between Prenatal Growth and Differences in Sexual Development in Newborns.

Hormone research in paediatrics
2025

Epigenetic landscape of hormone-independent sexual dimorphism and characterization of canine XIST.

Scientific reports
2025

Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis.

Molecular cytogenetics
2025

Epigenetic Clock Analysis of Sex Chromosome Aneuploidies.

Aging cell
2026

Sex 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 Obesity
2025

Fractionation of sex differences in human cortical anatomy.

bioRxiv : the preprint server for biology
2026

amh alleles on XY sex chromosomes regulate male differentiation in amphidiploid Carassius auratus.

Science China. Life sciences
2025

Long non-coding RNA PWRN4 associated with post-SVR hepatocellular carcinoma: a genome-wide association study.

Biomarker research
2025

An integrated multi-omic natural history study of human development, sexual dimorphism, and the effects of trisomy 21.

Nature communications
2026

Fertility of high-producing multiparous lactating dairy cows inseminated with fresh or frozen sex-sorted Y-chromosome bearing semen from Angus bulls.

Theriogenology
2025

Androgen receptor signaling as a new target for intervention in acute myeloid leukemia.

Blood advances
2025

Outcomes of pregnancies that screened positive for sex chromosome aneuploidy ascertained via cell-free DNA screening.

Journal of genetic counseling
2025

Morphological 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 cytochemica
2025

Meiotic Sex Chromosome Inactivation: Conservation across the Drosophila genus.

PLoS genetics
2025

A Quantitative Polymerase Chain Reaction Protocol for Sex Identification of Zebra Finch and Chicken Using Blood Samples.

bioRxiv : the preprint server for biology
2025

The gender-sensitive spectrum of neurodevelopmental disorders: a case report on a ZMYM3 variant in a 19-year-old female.

Frontiers in psychiatry
2026

Characterization of <italic>DMRT1</italic> Variants for Testis Determination and Differentiation in Emu.

Cytogenetic and genome research
2025

Influence of Gonadal and Chromosomal Sex on the Brain Transcriptome in a Mouse Species with Natural Sex Reversal.

Molecular biology and evolution
2025

Association of FOXP3 rs3761548 With Cancer: Systematic Review and Two Approaches of X-chromosome Genotypic Meta-analysis.

Cancer genomics &amp; proteomics
2025

Autosomally-encoded segregation distortion of sex chromosomes.

Proceedings. Biological sciences
2025

Sex-biased transcriptome in in vitro produced bovine early embryos.

Cell &amp; bioscience
2025

Mutation of MeCP2 at T158M Leads to Distinct Molecular and Phenotypic Abnormalities in Male and Female Mice.

Cells
2025

Convergent evolution of sex chromosomes in two palm species, Phoenix dactylifera and Kerriodoxa elegans.

Annals of botany
2025

Origin and evolutionary trajectories of brown algal sex chromosomes.

Nature ecology &amp; evolution
2025

A simple and reliable PCR-based method to differentiate between XX and XY sex genotypes in Cannabis sativa.

Planta
2025

Histone Demethylation Activity of UTX Contributes to the Regulation of Steroid Biosynthesis Genes in Embryonic Gonads but Is Dispensable for Gonadal Sex Determination.

Development, growth &amp; differentiation
2025

Effects of temperature and nutrition stress on Anopheles stephensi, an Indian urban malaria vector.

Malaria journal
2025

Heterogametic Females Reveal a ZW Sex Determination System and a Putative Sex Chromosome for the Chilean Jack Mackerel, Trachurus murphyi.

Molecular ecology resources
2025

Association between repeat number polymorphisms of sex hormone-related genes and gender phenotype variations in university students.

Sexual medicine
2025

Identification and expression analysis of sex-related genes in the pine wood nematode insect vector Monochamus saltuarius (Coleoptera: Cerambycidae).

International journal of biological macromolecules
2025

Nautilus sex determination is unique among cephalopods.

Current biology : CB
2025

Understanding Sex Differences in Autoimmune Diseases: Immunologic Mechanisms.

International journal of molecular sciences
2025

[Effect of Y chromosome microdeletion on pregnancy outcome of intracytoplasmic sperm injection].

Zhonghua nan ke xue = National journal of andrology
2025

An X-linked sex determination mechanism in cannabis and hop.

bioRxiv : the preprint server for biology
2025

Case Report: De novo DHX37 mutations in Saudi patients with 46,XY differences of sex development.

Frontiers in endocrinology
2025

The sex-chromosomes related cellular dimorphism in physiology and pathology.

Molecular and cellular endocrinology
2025

Differences of sex development.

Nature reviews. Disease primers
2025

Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center.

Children (Basel, Switzerland)
2025

Analysis of sex-differential gene expression on the target of approved drug.

Scientific reports
2025

Multiple Origins of Sex Chromosomes in Nothobranchius Killifishes.

Molecular ecology
2025

Elevated autistic traits and social anxiety, and reduced empathy in adult women with triple X syndrome.

Journal of neurodevelopmental disorders
2025

Chromosome-level Assembly of the Genome of Mesocentrotus nudus Reveals a Sex-Linked Region on Chromosome 7.

Marine biotechnology (New York, N.Y.)
2025

Deciphering gonadal transcriptome reveals circRNA-miRNA-mRNA regulatory network involved in sex differentiation and gametogenesis of Apostichopus japonicus.

Molecular genetics and genomics : MGG
2025

Sex-biased microRNA expression in the developing mouse brain: Multiple mechanisms driving its origin.

Gene
2025

Mental 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 Genetics
2025

Light and sex modify Snord116 genotype effects on metabolism, behavior, and imprinted gene networks following circadian entrainment.

bioRxiv : the preprint server for biology
2025

Karyotypic analysis of 62,587 Han Chinese infertile couples undergoing assisted reproductive technology treatments: insights into chromosomal variations.

BMC genomics
2025

Malignancy Risk in Turner Syndrome+Y, Early Gonadectomy, and the Ethics of Parental Choices.

Pediatrics
2025

Sexual Antagonism and Sex Determination in Three Syngnathid Species Alongside a Male Pregnancy Gradient.

Genome biology and evolution
2025

Sex-biased expression of sex-linked transcripts in spiny frogs with homomorphic sex chromosomes.

BMC genomics
2025

Molecular mechanisms of sex determination in Lepidoptera: current status and perspectives.

Insect science
2025

Prevalence of Differences of Sex Development Among Pediatric Endocrine Care Centers in Switzerland From 2000 to 2019.

Journal of the Endocrine Society
2025

The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.

BMC medicine
2025

Sex chromosome gene expression associated with vocal learning following hormonal manipulation in female zebra finches.

eLife
2025

Differential 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 sciences
2025

Satellite DNA Mapping in Suliformes (Aves): Insights into the Evolution of the Multiple Sex Chromosome System in Sula spp.

Genes
2025

Extensive Recombination Suppression and Genetic Degeneration of a Young ZW Sex Chromosome System in Halfbeak Fish.

Molecular biology and evolution
2025

NlAgo3 and NlBiwi are essential for piRNAs biogenesis and female reproduction in Nilaparvata lugens.

Insect biochemistry and molecular biology
2025

Genotype Identification of Complete Hydatidiform Moles without a Maternal Component: Attempts at a Novel 26-plex STR System.

Current medical science
2025

Evolution and functioning of an X-A balance sex-determining system in hops.

Nature plants
2025

The Impact of an Extra Chromosome on Language: Developmental Language Disorder in Sex Chromosome Trisomies.

Journal of speech, language, and hearing research : JSLHR
2025

Faster adaptation but slower divergence of X chromosomes under paternal genome elimination.

Nature communications
2025

Contrasting Evolutionary Trajectories Under Paternal Genome Elimination in Male and Female Citrus Mealybugs.

Molecular ecology
2025

Uncovering the mechanisms of sexual differentiation: insights from Drosophila research.

Comptes rendus biologies
2025

Maternal Age-Related Gender Bias in Trisomy 21 and Trisomy 18.

Birth defects research
2025

Meiosis in Hybrids: Looking for the Order in Disorder.

Cytogenetic and genome research
2025

Sex steroid profiles align with phenotype in sex-reversed female lizards.

General and comparative endocrinology
2025

Spatial ability, episodic memory, and emotion recognition in women with congenital adrenal hyperplasia or complete androgen insensitivity syndrome.

Hormones and behavior
2025

A novel sex-associated genomic region in Catostomus fish species.

The Journal of heredity
2025

Artificial Induction of Meiotic Gynogenesis in Koi Carp Using Blunt Snout Bream Sperm and Identification of Gynogenetic Offspring.

Animals : an open access journal from MDPI
2025

AMHY and sex determination in egg-laying mammals.

Genome biology
2025

Early establishment and life course stability of sex biases in the human brain transcriptome.

Cell genomics
2025

Survey of tocopherol and the associated genetic loci in wheat grain.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik
2025

Sex-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 America
2025

Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3X.

Nature communications
2025

Divergent DNA methylation dynamics in marsupial and eutherian embryos.

Nature
2025

Exploring Tissue- and Sex-Specific DNA Methylation in Cattle Using a Pan-Mammalian Infinium Array.

International journal of molecular sciences
2025

The 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 differences
2025

Effect of heterozygous deletions on phenotypic changes and dosage compensation in Arabidopsis thaliana.

Scientific reports
2025

Variation in adult sex ratios in tetrapods is linked to sex chromosomes through mortality differences between males and females.

PLoS biology
2025

Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.

EBioMedicine
2025

The fourspine stickleback (Apeltes quadracus) has an XY sex chromosome system with polymorphic inversions on both X and Y chromosomes.

PLoS genetics
2025

Genome content reorganization in the non-model ciliate Chilodonella uncinata: insights into nuclear architecture, DNA content, and chromosome fragmentation during macronuclear development.

mSphere
2025

In-depth investigation of genome to refine QTL positions for spontaneous sex-reversal in XX rainbow trout.

PloS one
2025

Sex-specific DNA methylation signatures of autism spectrum disorder from whole genome bisulfite sequencing of newborn blood.

Biology of sex differences
2025

Social communication skills profile in infants with sex chromosome trisomy at 12 months of age.

Infant behavior &amp; development
2025

Roles of chromosomal and gonadal sex in the fetal and placental responses to maternal food restriction in mice.

Molecular human reproduction
2025

Transcriptomic sex differences in early human fetal brain development.

Communications biology
2025

Sex determination in moths and butterflies: Masculinizer as key player.

Current opinion in insect science
2025

Germline mutation rates and fine-scale recombination parameters in zebra finch.

PLoS genetics
2025

Sexually dimorphic gene expression responses of bovine embryos to the maternal microenvironment on day 13 of gestation.

BMC genomics
2025

Exploratory 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 endocrinology
2025

Artifacts, 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 diagnosis
2025

Who may compete in the female category in sport? Chromosomes, genes, hormones, and psychosocial/cultural aspects.

Current opinion in pediatrics
2025

Brain structure in triple X syndrome: regional gray matter volume and cortical thickness in adult women with 47,XXX karyotype.

Journal of neurodevelopmental disorders
2025

Can Individuals with 47,XYY Karyotypes Exist without Male Phenotype? A Narrative Literature Review and Case Report.

Frontiers in bioscience (Scholar edition)
2025

Optimizing Y-chromosome microdeletion screening in Chinese male infertility patients: a large-scale multi-centre study on incidence.

Human reproduction (Oxford, England)
2025

Whole-genome bisulfite sequencing of X and Y sperm in Holstein bulls reveals differences in autosomal methylation status.

BMC genomics
2025

Research progress on estrogen and estrogen receptors in the occurrence and progression of autoimmune thyroid diseases.

Autoimmunity reviews
2025

Estrogen influences class-switched memory B cell frequency only in humans with two X chromosomes.

The Journal of experimental medicine
2025

A Novel SRD5A2 Loss-of-Function Variant in a Chinese Child with 5α-Reductase type 2 Deficiency.

Journal of clinical research in pediatric endocrinology
2025

Breaking rules: the complex relationship between DNA methylation and X-chromosome inactivation in the human placenta.

Biology of sex differences
2025

Strategies for studying sex differences in brain aging.

Trends in genetics : TIG
2025

X-chromosome-linked miR-542-5p as a key regulator of sex disparity in rats with adjuvant-induced arthritis by promoting Th17 differentiation.

Biomarker research
2025

Functional Study of Four Histone Genes Involved in the Spermatogenesis of Cynoglossus semilaevis.

Animals : an open access journal from MDPI
2024

Repetitive 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 differentiation
2025

Sources of behavioral variability in C. elegans: Sex differences, individuality, and internal states.

Current opinion in neurobiology
2025

The origin, evolution, and translocation of sex chromosomes in Silurus catfish mediated by transposons.

BMC biology
2025

Chromosomal and gonadal sex have differing effects on social motivation in mice.

Biology of sex differences
2025

Factors, pregnancy outcomes, and management associated with non-reportable results in prenatal cell-free DNA testing.

Archives of gynecology and obstetrics
2025

Investigation of sex determination in African cichlids reveals lack of fixed sex chromosomes in wild populations.

Journal of evolutionary biology
2024

Unveiling sex-disparities and the impact of gender-affirming hormone therapy on periodontal health.

Frontiers in dental medicine
2025

Dose-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.

Cell communication and signaling : CCS

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Doenças relacionadas

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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.

  1. Sexing chicken embryos by real-time PCR using primers for the KCMF gene located on the W chromosome.
    Poultry science· 2026· PMID 41850055mais citado
  2. 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
  3. 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
  4. ZSL 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)· 2026· PMID 41782385mais citado
  5. 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
  6. Shared Origin of Y and Z Chromosomes in the Turnover of XY and ZW Systems in the Frog Glandirana rugosa.
    Biomolecules· 2026· PMID 41750350recente
  7. Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development.
    Biol Sex Differ· 2026· PMID 41680906recente
  8. Expression atlas of Dmrt genes across sex and development in the mouse brain: functional insights from the olfactory system.
    Biol Sex Differ· 2026· PMID 41630050recente
  9. Whole-Genome Resequencing Analysis Reveals Insights into Sex Determination and Gene Loci Associated with Sex Differences in Procambarus clarkii.
    Int J Mol Sci· 2026· PMID 41596585recente
  10. Effects of cyp19a1a and cyp19a1b Knockout on Germ Cell Kinetics During Gonadal Sex Differentiation in Medaka.
    Dev Growth Differ· 2026· PMID 41518061recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:325546(Orphanet)
  2. MONDO:0017975(MONDO)
  3. Variantes catalogadas(ClinVar)
  4. Busca completa no PubMed(PubMed)
  5. 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

doença cromossômica sexual do desenvolvimento sexual
Compêndio · Raras BR

doença cromossômica sexual do desenvolvimento sexual

ORPHA:325546 · MONDO:0017975
UMLS
C2936421
Wikidata
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