Uma infertilidade masculina de origem genética, caracterizada pela ausência total de espermatozoides (azoospermia) ou por uma quantidade muito baixa (oligozoospermia) no sêmen, causada por uma microdeleção (uma pequena perda de material genético) no cromossomo Y.
Introdução
O que você precisa saber de cara
Uma infertilidade masculina de origem genética, caracterizada pela ausência total de espermatozoides (azoospermia) ou por uma quantidade muito baixa (oligozoospermia) no sêmen, causada por uma microdeleção (uma pequena perda de material genético) no cromossomo Y.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 8 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
9 genes identificados com associação a esta condição. Padrão de herança: Not applicable, Y-linked.
RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation
CytoplasmNucleus
Spermatogenic failure Y-linked 2
A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.
RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation
CytoplasmNucleus
Spermatogenic failure Y-linked 2
A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.
May be involved in sperm differentiation and proliferation
CytoplasmNucleus
RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation
CytoplasmNucleus
Spermatogenic failure Y-linked 2
A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.
Probable ATP-dependent RNA helicase. During immune response, may enhance IFNB1 expression via IRF3/IRF7 pathway (By similarity)
CytoplasmNucleus
Deubiquitinase that mediates deubiquitination of target proteins (PubMed:12895410). May stabilize target proteins that are important for male germ cell development (PubMed:12895410)
RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation. Promotes germ-cell progression to meiosis and formation of haploid germ cells
CytoplasmNucleus
Spermatogenic failure Y-linked 2
A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.
RNA-binding protein involved in pre-mRNA splicing. Required for sperm development. Acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN. Binds non-specifically to mRNAs
Nucleus
Variantes genéticas (ClinVar)
147 variantes patogênicas registradas no ClinVar.
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 — Síndrome de microdeleção do cromossomo Y
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome de microdeleção do cromossomo Y
Centros para Síndrome de microdeleção do cromossomo Y
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
Microdeletion and microduplication syndromes, including recurrent rearrangements at 16p11.2 and 22q11.21, are enriched in unexplained male infertility.
What is the impact of undiagnosed microdeletion and microduplication syndromes (MMS) for men with idiopathic low sperm count? Among idiopathic male infertility, ∼2% of cases harbour known disease-causing microdeletions and duplications linked to clinically well-established syndromes, representing ∼2.5-fold higher prevalence than in the general population. While infertility affects up to 10% of men, a substantial proportion of cases remain with no identifiable underlying cause. Recurrent submicroscopic losses or gains cause MMS, some of which also impact reproductive phenotypes, including cryptorchidism and reduced fertility. This retrospective study investigated the proportion of undiagnosed MMS among idiopathic male infertility cases. Patients with unexplained low total sperm counts (TSC; defined as ≤39 million sperm per ejaculate) were recruited to the ESTonian ANDrology (ESTAND) cohort at the Andrology Clinic of Tartu University Hospital (AC-TUH) in Estonia. A total of 504 men were included in the analysis, and the study capitalized on available whole-exome sequencing (WES) data to explore large (>500 kb) chromosomal deletions and duplications. Copy number variant (CNV) calling was executed on the WES dataset, followed by a stringent, custom-developed filtering pipeline that retained only high-confidence CNVs larger than 500 kb. Candidate CNVs were validated by chromosomal microarray analysis (CMA) or whole-genome sequencing (WGS). Prevalence of identified MMS-linked deletions and duplications in the ESTAND cohort was compared to general population literature data. A total of nine patients (1.8%) carried losses and gains linked to clinically well-characterized MMS-recurrent microdeletions at 16p11.2 (two cases), 2q13-14.1, and 15q13.2-13.3, and microduplications at 22q11.21 (three cases), 16p11.2, and 8p23.1. The total burden of MMS among infertile men was ∼2.5-fold higher compared to the general population (P = 0.01, χ2 test). Cryptorchidism was a novel shared feature among all individuals with 16p11.2 rearrangements, suggesting a potential role in disrupting testicular development. Three subjects with MMS-linked microduplications, but none with a microdeletion, had achieved biological fatherhood. An oligozoospermia case (TSC 1.92 × 106/ej.) with 16p11.2 duplication had a naturally conceived child in youthhood. For two men carrying 22q11.21 duplication (TSC 0 and 4.2 × 106/ej., respectively), implementation of ARTs-ICSI with or without preceding testicular sperm aspiration-resulted in successful conception and childbirth. Evidence for a plausible link to male gonadal development and function has been reported for MAZ and KCTD13 at 16p11.2, and LZTR1 at 22q11.21. As an additional finding, a novel ∼3.8 Mb microduplication at 3p25.1 was identified in an oligozoospermia patient and his azoospermic son, conceived naturally at the age of 28 years. This region encompasses a triplosensitive gene, NR2C2, linked to affected meiosis and oligozoospermia in mouse models. WES may not detect all structural variations, such as inversions or balanced translocations. As some MMS CNVs were only identified in singleton cases (8p23.1 duplication, 2q13-14.1 and 15q13.2-13.3 deletions), the link to male infertility could not be clarified. Further data are needed about the novel large 3p25.1 microduplication to understand its effect on spermatogenesis. The yield of identified MMS in idiopathic cases with low sperm counts (∼2%) was close to the carriership of Y-chromosome microdeletions, tested in routine infertility workup. Early identification of MMS can inform genetic counselling regarding congenital health risks to the patient and future offspring and options for decision-making in ART. This study was supported by the Estonian Research Council (Grant number PRG1021 to M.L.). The authors declare that they have no conflict of interest in relation to the data in this paper. N/A.
Sex-determining Region of Y-gene Translocation and 46,XX Testicular Disorders of Sex Development: Cytogenetic and Molecular Insights into Male Infertility.
46,XX male syndrome, also known as De la Chapelle syndrome, is a rare condition characterised by a discordance between chromosomal sex and male phenotypic presentation. This study investigates the genetic basis of sex-determining region of Y-gene (SRY)-positive 46,XX testicular disorders of sex development in three male patients presenting with primary infertility and signs of hypogonadism. All patients had azoospermia on semen analysis. Cytogenetic and molecular investigations, including conventional karyotyping, fluorescence in situ hybridisation and polymerase chain reaction, confirmed a 46,XX karyotype with SRY gene translocated onto the short arm of one X chromosome. Y chromosome microdeletion analysis revealed the complete absence of Azoospermia Factor a (AZFa), AZFb and AZFc regions, which correlates with the observed infertility. These findings highlight the role of SRY translocation in initiating the testicular development in 46,XX individuals, while the absence of AZF regions contributes to spermatogenic failure.
Male sex reversal syndrome: a disorder of sexual differentiation (DSD) with infertility.
46,XX male sex reversal syndrome is a rare genetic disorder where individuals with a 46,XX karyotype present with male phenotypic characteristics despite the absence of an Y chromosome. We report a case of a male in his early 30s, presenting with infertility and azoospermia, with bilateral small testes, but no other sexual dysfunction or any signs of hypovirulisation. His hormonal evaluation revealed hypogonadism with normal gonadotropin levels. Genetic testing showed a 46,XX karyotype with the presence of the sex-determining region on the Y chromosome (SRY) gene and microdeletions in the azoospermia factor region, confirming the diagnosis of SRY-positive 46,XX male sex reversal syndrome. As sperm retrieval was not recommended, the couple pursued donor insemination, resulting in conception during the first cycle. The female partner is now in her third trimester of pregnancy. Testosterone replacement therapy was initiated for hypogonadism, and long-term follow-up was recommended for monitoring therapy and neoplastic risk. This case intends to provide an overview focused on improving diagnostic and management strategies for 46,XX male sex reversal syndrome, emphasising the necessity of genetic evaluation for all patients with hypogonadism and azoospermia presenting with infertility, not limited to those with hypergonadotropic hypogonadism. It also highlights the critical role of a multidisciplinary approach in the effective management of this condition.
Sertoli cells-only syndrome: current clinical approaches and ongoing research trends.
Sertoli Cells-Only Syndrome (SCOS), also known as Del Castillo syndrome or germ cell aplasia, is the most frequent cause of non-obstructive azoospermia, being found in 26-57% of patients affected by this condition. Although up to 10% of infertile males seeking medical attention are affected by SCOS and almost 80 years have already passed since this challenging syndrome was first described, therapeutic approaches to date are modest. The etiology of SCOS involves a large number of causes, including Y-chromosome microdeletions, trauma, viral infections, exposure to radiation or toxins, or idiopathic causes. The seminiferous tubule may be involved in its entirety or affected in a focal pattern only, with residual islands of spermatogenesis, which explains the variability in the success rate of sperm recovery in these patients. No prognostic markers, hormonal or of other nature, are currently employed in clinical practice. The purpose of this review is to organize the known information on SCOS and define current correct diagnostic and clinical practice, focusing in the second section on areas of research to look out for in terms of potential practical developments from the vast knowledge accumulated over recent decades.
Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.
Non-obstructive azoospermia (NOA) is one of the most severe manifestations of male infertility, accounting for up to 70% of azoospermic cases and affecting approximately 1% of the male population. Advances in genomics and epigenetics have transformed our understanding of NOA from a primarily idiopathic condition into a biologically heterogeneous disorder driven by diverse molecular mechanisms. This review synthesizes the current knowledge of the genetic and epigenetic landscape of NOA, integrating chromosomal abnormalities, single-gene mutations, and non-coding RNA (ncRNA) dysregulation. First, we systematically examine classical and emerging chromosomal defects-including karyotype anomalies, Y-chromosome microdeletions, and structural rearrangements-that disrupt meiotic pairing and chromatin organization. Next, we explore syndromic and non-syndromic monogenic mutations affecting meiotic regulators, DNA repair factors, transcription regulators, and chromatin remodelers. Particular emphasis is placed on recently identified genes such as SYCP1, SYCE1 and HORMAD1, whose pathogenic variants are frequently linked to spermatogenic arrest. We then discuss the expanding role of ncRNAs-including microRNAs, PIWI-interacting RNAs, long non-coding RNAs, and circular RNAs-in regulating germ cell apoptosis, transposon silencing, and epigenetic reprogramming. Furthermore, we highlight the translational potential of these molecular insights (including gene variants, ncRNAs and protein) in clinical applications. Genotype-guided sperm retrieval, non-invasive biomarkers, and multi-omic approaches are discussed as promising tools to improve diagnosis and treatment. Moreover, we summarize current and emerging strategies for the treatment and fertility preservation of NOA. Finally, we identify persisting challenges, such as genotypic heterogeneity and incomplete functional validation, and emphasize the need to elucidate interactions between ncRNA and classical genetic pathways to uncover regulatory hierarchies underlying NOA. By integrating molecular genetics with testicular histopathology and clinical phenotypes, this review highlights emerging genetic and ncRNA biomarkers and underscores their potential applications in the clinical management of NOA. Ultimately, a comprehensive understanding of the genetic and epigenetic underpinnings of NOA will be essential for advancing precision diagnostics and improving reproductive outcomes in affected men.
Publicações recentes
Congenital anomalies from the health surveillance perspective: compilation of a list based on ICD-10.
Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis.
📚 EuropePMCmostrando 115
Sex-determining Region of Y-gene Translocation and 46,XX Testicular Disorders of Sex Development: Cytogenetic and Molecular Insights into Male Infertility.
Journal of human reproductive sciencesSertoli cells-only syndrome: current clinical approaches and ongoing research trends.
Frontiers in endocrinologyGenetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.
Reproductive biology and endocrinology : RB&EMicrodeletion and microduplication syndromes, including recurrent rearrangements at 16p11.2 and 22q11.21, are enriched in unexplained male infertility.
Human reproduction (Oxford, England)Chromosomal Roadblocks in Male Fertility: Mechanisms, Risk Factors and Syndromes.
Medicina (Kaunas, Lithuania)Expression of marker genes to assess the spermatogenic capacity in patients with idiopathic non-obstructive azoospermia.
Journal of assisted reproduction and geneticsMale infertility and its ties to next generation sequencing as a new forward path to definite diagnoses.
GeneMale sex reversal syndrome: a disorder of sexual differentiation (DSD) with infertility.
BMJ case reportsPrevalence, spermatozoa, hormonal, and genetic evaluation of rare mosaic klinefelter syndrome patients in southern China.
Frontiers in geneticsThe selection of Y chromosome microdeletion detection methods based on seminal analysis results: a comparison of high-throughput sequencing and fluorescence quantitative polymerase chain reaction (qPCR) applications.
Translational andrology and urologyGenetics of male infertility.
Current opinion in urologyGenetic anomalies in infertile Egyptian men and their impact on sperm retrieval rates and intracytoplasmic sperm injection outcome: A retrospective cohort study.
AndrologySuccessful Sperm Retrieval and Clinical Pregnancies Following Micro-TESE and ICSI Treatments in Patients with Nonobstructive Azoospermia Due to Various Etiologies.
CellsA retrospective analysis of 1600 infertility patients with azoospermia and severe oligozoospermia.
Clinica chimica acta; international journal of clinical chemistryHow exome sequencing improves the diagnostics and management of men with non-syndromic infertility.
AndrologySRY-positive 45,X/46,XY karyotype in a phenotypically Turner-like Chinese adolescent female with ovarian dysgerminoma and gonadoblastoma.
Journal of pediatric endocrinology & metabolism : JPEMThe paternal role in pregnancy loss.
Andrology[Clinical features and Y chromosome abnormalities in children with 45, X/46, XY mosaicism].
Zhonghua er ke za zhi = Chinese journal of pediatricsSperm retrieval outcomes of contralateral testis in men with nonobstructive azoospermia and unsuccessful unilateral microdissection testicular sperm extraction.
Fertility and sterilityAzoospermia factor c microdeletions and outcomes of assisted reproductive technology: a systematic review and meta-analysis.
Fertility and sterilityEAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023.
AndrologyWhole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
PloS oneInfertility treatment for patients having a microdeletion of azoospermic factor (AZF).
Nagoya journal of medical scienceDeciphering the Molecular Characteristics of Human Idiopathic Nonobstructive Azoospermia from the Perspective of Germ Cells.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Concomitance of 47,XXY, a balanced reciprocal translocation of t(4;17)(q12;q11.2) encompassing SPINK2 at 4q12 and NOS at 17q11.2 and an AZFa sY86 deletion in an infertile male.
Taiwanese journal of obstetrics & gynecologyDevelopment of a predictive model for increasing sperm retrieval success by microdissection testicular sperm extraction in patients with nonobstructive azoospermia.
Asian journal of andrologySertoli cell-only syndrome: advances, challenges, and perspectives in genetics and mechanisms.
Cellular and molecular life sciences : CMLSA Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221).
GenesBridging the Gap between AZF Microdeletions and Karyotype: Twelve Years' Experience of an Infertility Center.
The world journal of men's healthY-chromosome haplogroups and Azoospermia Factor (AZF) analysis in Tunisian infertile male.
Human fertility (Cambridge, England)Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility.
Journal of reproduction & infertilityOutcomes and affecting factors for ICSI and microTESE treatments in nonobstructive azoospermia patients with different etiologies: A retrospective analysis.
Frontiers in endocrinologyAZF gene microdeletions in azoospermic-oligozoospermic males.
Medicina clinicaUnusual association between testicular tuberculosis and microdeletion of the Y chromosome in an infertile patient with azoospermia.
Annals of medicine and surgery (2012)Prevalence of Y chromosome microdeletions among infertile Mongolian men.
Clinical and experimental reproductive medicineGenetic Architecture of Azoospermia-Time to Advance the Standard of Care.
European urologyIdentification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia.
Reproductive biology and endocrinology : RB&EMicrodeletions and vertical transmission of the Y-chromosome azoospermia factor region.
Asian journal of andrologyPrevalence of Y-chromosomal microdeletions and karyotype abnormalities in a cohort of Lebanese infertile men.
Urology annalsComplex rearrangements of Y chromosome suggest RPS4Y1 as lymphedema candidate gene.
Taiwanese journal of obstetrics & gynecologyA patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review.
BMC urologyTranslational aspects of novel findings in genetics of male infertility-status quo 2021.
British medical bulletinA systemic review and meta-analysis exploring the predictors of sperm retrieval in patients with non-obstructive azoospermia and chromosomal abnormalities.
AndrologiaTesticular microlithiasis defines a subgroup of azoospermic men with low rates of sperm retrieval.
International journal of urology : official journal of the Japanese Urological AssociationCurrent updates and future perspectives in the evaluation of azoospermia: A systematic review.
Arab journal of urologyA systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Human reproduction updateStereological properties of seminiferous tubules in infertile men with chromosomal and genetic abnormalities.
Minerva endocrinologyIdentification of genomic imbalances (CNVs as well as LOH) in sertoli cell only syndrome cases through cytoscan microarray.
GeneMicrosurgical testicular sperm extraction for testicular failure: the South African experience and first successful pregnancy.
South African journal of surgery. Suid-Afrikaanse tydskrif vir chirurgie[Cytogenetic analysis of an amniotic sample with X chromosome abnormality signaled by non-invasive prenatal testing].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsDetection and analysis of null alleles of amelogenin in gender identification.
Legal medicine (Tokyo, Japan)Detection of AZF microdeletions and reproductive hormonal profile analysis of infertile sudanese men pursuing assisted reproductive approaches.
BMC urologyHistology and sperm retrieval among men with Y chromosome microdeletions.
Translational andrology and urologyY-microdeletions: a review of the genetic basis for this common cause of male infertility.
Translational andrology and urologyGenetic testing for men with infertility: techniques and indications.
Translational andrology and urologyHuman AZFb deletions cause distinct testicular pathologies depending on their extensions in Yq11 and the Y haplogroup: new cases and review of literature.
Cell & bioscienceY chromosome microdeletion and cytogenetic findings in male infertility: A cross-sectional descriptive study.
International journal of reproductive biomedicineSRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature.
World journal of clinical casesGenetic mutations contributing to non-obstructive azoospermia.
Best practice & research. Clinical endocrinology & metabolismSingle-cell analysis of developing and azoospermia human testicles reveals central role of Sertoli cells.
Nature communicationsNonmosaic Isodicentric Y Chromosome: A Rare Cause of Azoospermia- From Genetics to Clinical Practice.
Case reports in endocrinologyPredictors of surgical sperm retrieval in non-obstructive azoospermia: summary of current literature.
International urology and nephrologyComplex Y chromosome anomalies in an infertile male.
JBRA assisted reproduction48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report.
Journal of medical case reportsSperm retrieval rates and clinical outcomes for patients with different causes of azoospermia who undergo microdissection testicular sperm extraction-intracytoplasmic sperm injection.
Asian journal of andrologyFirst custom next-generation sequencing infertility panel in Latin America: design and first results.
JBRA assisted reproductionA different look at genetic factors in individuals with non-obstructive azoospermia or oligospermia in our research study: To whom, which threshold, when, in what way?
Revista internacional de andrologiaA contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts.
Journal of assisted reproduction and geneticsCase - Severely oligozoospermic patient with both mosaic Klinefelter syndrome and a complete azoospermia factor c (AZFc) Y chromosome microdeletion.
Canadian Urological Association journal = Journal de l'Association des urologues du CanadaSperm retrieval from a male with the rare 47, XXYqs variant of Klinefelter syndrome for intracytoplasmic sperm injection: A case report.
AndrologiaParameters predicting sperm retrieval rates during microscopic testicular sperm extraction in nonobstructive azoospermia.
AndrologiaY chromosome microdeletions screening in Tunisian infertile men.
Annales de biologie cliniqueTelomeric association between chromosomes Y and 19 in a mosaic Turner with primary ovarian insufficiency.
The journal of obstetrics and gynaecology researchSperm Count and Hypogonadism as Markers of General Male Health.
European urology focusPatient with Disorders of Sex Development (DSD): A Case Report from a Tertiary Care Hospital in Thiruvananthapuram, India.
Journal of reproduction & infertility[The incidence of AZF deletions, CFTR mutations and long alleles of the ar CAG repeats during the primary laboratory diagnostics in a heterogeneous group of infertily men].
Urologiia (Moscow, Russia : 1999)Clinical and molecular characterization of Y microdeletions and X-linked CNV67 implications in male fertility: a 20-year experience.
AndrologyThe reproductive outcome of an infertile man with AZFc microdeletions, via intracytoplasmic sperm injection in a high-risk pregnancy: Case report and literature review.
MedicineGenetic defects in human azoospermia.
Basic and clinical andrologyEvaluation of chromosomal abnormalities and Y chromosome microdeletion in infertile males of 10 families.
JPMA. The Journal of the Pakistan Medical AssociationGenetic investigations on causes of male infertility in Western Saudi Arabia.
AndrologiaGonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY.
Human reproduction (Oxford, England)[The development and approbation of methodology on the basis of multiplex polymerase chain reaction in real-time to determine clinically significant micro-deletion in Y-chromosome.].
Klinicheskaia laboratornaia diagnostikaIncidence of Y chromosome microdeletions in patients with Klinefelter syndrome.
Journal of endocrinological investigationA Search for Disorders of Sex Development among Infertile Men.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationThe frequencies of Y chromosome microdeletions in infertile males.
Turkish journal of urologyChromosomal abnormalities in infertile men with azoospermia and severe oligozoospermia in Qatar and their association with sperm retrieval intracytoplasmic sperm injection outcomes.
Arab journal of urologyTesting for genetic contributions to infertility: potential clinical impact.
Expert review of molecular diagnosticsClinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients.
Cytogenetic and genome researchDevelopment and implementation of a novel panel consisting 20 markers for the detection of genetic causes of male infertility.
AndrologiaFamilial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.
Cytogenetic and genome research[Familial fragile X syndrome: A pedigree analysis].
Zhonghua nan ke xue = National journal of andrologyMicrodissection testicular sperm extraction in Finland - results of the first 100 patients.
Acta obstetricia et gynecologica ScandinavicaValidation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.
Human mutationMulticenter study of genetic abnormalities associated with severe oligospermia and non-obstructive azoospermia.
The Journal of international medical researchMild androgen insensitivity syndrome (MAIS): the identification of c.1783C>T mutation in two unrelated infertile men.
BMJ case reportsMECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility.
European journal of endocrinologyGenetic diagnostics of male infertility in clinical practice.
Best practice & research. Clinical obstetrics & gynaecologyAZFa Microdeletions: Occurrence in Chinese Infertile Men and Novel Deletions Revealed by Semiconductor Sequencing.
UrologyY-Chromosomal Microdeletion in Idiopathic Azoospermic and Severe Oligozoospermic Indonesian Men.
Acta medica IndonesianaCorrelation of genetic results with testicular histology, hormones and sperm retrieval in nonobstructive azoospermia patients with testis biopsy.
Andrologia46,XX males: a case series based on clinical and genetics evaluation.
AndrologiaClinical, genetic, biochemical, and testicular biopsy findings among 1,213 men evaluated for infertility.
Fertility and sterilityMiller-Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y)(p13;p11.32) detected by fluorescence in situ hybridization and G-banding analysis using high resolution banding technique.
Congenital anomaliesRare congenital chromosomal aberration dic(X;Y)(p22.33;p11.32) in a patient with primary myelofibrosis.
Molecular cytogenetics[Genetic analysis of a child with XYY syndrome mainly featuring mental retardation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsExpanding non-invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y.
Clinical geneticsSertoli Cell-Only Syndrome: Behind the Genetic Scenes.
BioMed research internationalEvaluation of Microdissection Testicular Sperm Extraction Results in Patients with Non-Obstructive Azoospermia: Independent Predictive Factors and Best Cutoff Values for Sperm Retrieval.
Urology journalInvestigation of AZF microdeletions in patients with Klinefelter syndrome.
Genetics and molecular research : GMRPrevalence of Y Chromosome Microdeletions in Idiopathic Azoospermia Cases in Central Indian Men.
Journal of clinical and diagnostic research : JCDRChromosomal Abnormalities in Infertile Men from Southern India.
Journal of clinical and diagnostic research : JCDRChromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco.
BMC urologyOverexpression of the LSAMP and TUSC7 genes in acute myeloid leukemia following microdeletion/duplication of chromosome 3.
Cancer geneticsMicrodissection TESE is superior to conventional TESE in patients with nonobstructive azoospermia caused by Y chromosome microdeletions.
AndrologiaAssociações
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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.
- Microdeletion and microduplication syndromes, including recurrent rearrangements at 16p11.2 and 22q11.21, are enriched in unexplained male infertility.
- Sex-determining Region of Y-gene Translocation and 46,XX Testicular Disorders of Sex Development: Cytogenetic and Molecular Insights into Male Infertility.
- Male sex reversal syndrome: a disorder of sexual differentiation (DSD) with infertility.
- Sertoli cells-only syndrome: current clinical approaches and ongoing research trends.
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.
- Congenital anomalies from the health surveillance perspective: compilation of a list based on ICD-10.
- Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1646(Orphanet)
- MONDO:0015607(MONDO)
- GARD:16574(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q8046191(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
