46,XX distúrbio do desenvolvimento sexual-síndrome de anomalias anorretais é um defeito de desenvolvimento raro durante a síndrome de embriogênese caracterizada por um cariótipo feminino normal, ovários normais, genitália masculina ou ambígua, malformações do trato urinário (variando de agenesia renal bilateral a hidronefrose unilateral leve), anomalias do ducto de Mülleriano (por exemplo, ausência completa do útero e da vagina, útero bicorno) e ânus imperfurado. Características adicionais podem incluir fístula traqueoesofágica, aplasia radial e má rotação do intestino.
Introdução
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46,XX distúrbio do desenvolvimento sexual-síndrome de anomalias anorretais é um defeito de desenvolvimento raro durante a síndrome de embriogênese caracterizada por um cariótipo feminino normal, ovários normais, genitália masculina ou ambígua, malformações do trato urinário (variando de agenesia renal bilateral a hidronefrose unilateral leve), anomalias do ducto de Mülleriano (por exemplo, ausência completa do útero e da vagina, útero bicorno) e ânus imperfurado. Características adicionais podem incluir fístula traqueoesofágica, aplasia radial e má rotação do intestino.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 15 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
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🇧🇷 Atendimento SUS — Síndrome de diferença do desenvolvimento sexual 46,XX-anomalias anorretais
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24 centros habilitados pelo SUS para Síndrome de diferença do desenvolvimento sexual 46,XX-anomalias anorretais
Centros para Síndrome de diferença do desenvolvimento sexual 46,XX-anomalias anorretais
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
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Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
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Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
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Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
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Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
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Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
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Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
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Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
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R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
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R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
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Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
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Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
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Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
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Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
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Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
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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
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Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
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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
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R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
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Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
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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
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Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
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Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
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UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
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Publicações mais relevantes
Prevalence of Anxiety and Depression in Women with Mayer-Rokitansky-Kϋster-Hauser (MRKH) Syndrome in Malaysia.
To determine the prevalence of anxiety and depression in women with Mayer-Rokitansky-Kϋster-Hauser (MRKH) syndrome in Malaysia. This was a cross-sectional study conducted on women with MRKH living in Malaysia. The study collected the sociodemographic and medical profiles of participants. Two translated and validated questionnaires were used: Generalized Anxiety Disorder-7 (GAD-7) and Patient Health Questionnaire-9 (PHQ-9), to determine the prevalence of anxiety and depression, respectively. A total of 77 women participated in this study. The participants had a mean age of 29.1 ± 8.3 years, and the mean age at MRKH syndrome diagnosis was 20.5 ± 5.0 years. Based on GAD-7 outcomes, up to 29 women (37.7%) experienced anxiety. Following assessment of depression prevalence using the PHQ-9, 25 participants (32.5%) were classified into the depressed group. There was no statistically significant difference in participants' attributes on the basis of the examination of sociodemographic and clinical characteristics between the 2 groups. Further analysis identified that participants with MRKH in the B40 income bracket (<RM 4850, the lowest income bracket group in Malaysia) were 12 times more likely to develop depressive symptoms (OR = 12.83; 95% CI 1.14-143.77; P < .05). Furthermore, participants with MRKH portraying anxiety symptoms were 10 times more likely to also experience depressive symptoms (OR = 10.7; 95% CI 3.18-35.96; P < .05). More than a third of women with MRKH syndrome in Malaysia experienced depression and anxiety, which needs to be addressed.
Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome.
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterised by aplasia of the uterus, cervix and upper part of the vagina. The genetic aetiology remains incompletely understood. We performed gene-level and gene set-level burden analyses based on exome sequencing/genome sequencing data from 727 probands with MRKHS and 2504 female control individuals. Single-cell RNA sequencing (scRNA-seq) was performed on human and mouse embryonic metanephros at different developmental stages. Genetic and transcriptomic data were integrated to prioritise suboptimal genetic signals, identify relevant cell types and determine key developmental stages. Potential digenic inheritance was assessed and prioritised using coexpression patterns from scRNA-seq data. We identified known MRKHS genes (PAX8, BMP7, GREB1L) and novel candidates (PAN2, AGPAT2) with exome-wide significance. Enriched biological processes included cell apoptosis and mesenchymal-to-epithelial transition. In human embryos, MRKHS-associated genes were enriched in the uterine epithelium at eight gestational weeks (w8) and Wolffian duct epithelium at w11, supporting the biological relevance of burden signals. We detected 992 digenic combinations in MRKHS, with three achieving exome-wide significance (CPSF3L/CYP2A7, AICDA/NOS1, EVC2/KANK1). Our study reveals both established and novel genetic contributors to MRKHS, links them to specific embryonic cell types and stages, and highlights potential digenic inheritance patterns. Integrating genetic burden and single-cell transcriptomic data provides new insights into the complex molecular mechanisms underlying MRKHS.
What is the access to NHS fertility treatments for women with Mayer-Rokitansky-Küster-Hauser syndrome across England? A freedom of information study.
The aims of this study were (1) To investigate the availability of NHS funded in vitro fertilisation (IVF) treatment for individuals affected by Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) from all Integrated Care Boards (ICBs) across England and (2) To assess the ethical implications of piecemeal funding for those with MRKH. This was a mixed-methods study containing both quantitative and qualitative data. We filed freedom of information (FOI) act requests on 01/06/2023 for all 42 ICBs across England via secure email. The study focused on England. All 42 ICBs across England were contacted. The FOI requests asked for information concerning the provision of funded IVF for uterine factor infertility, and if this included individuals with MRKH. Where assistance was available, we recorded what it comprised along the IVF cycle. If IVF was not offered, we recorded the rationale provided by the ICB. Responses were received from all 42 ICBs across England. Seven stated that they would fund IVF and cryopreservation of embryos to women with MRKH and other absolute uterine factor infertility diagnoses (NHS Humber and North Yorkshire, NHS Dorset, NHS Devon, NHS Cornwall and Isles of Scilly, NHS Buckinghamshire, Oxford and Berkshire, NHS South Yorkshire and NHS West Yorkshire). However, the number of cycles, the length of cryopreservation and whether they would fund embryo transfer into a surrogate differed between ICBs.Of the remainder, three (NHS Leicester, Leicestershire and Rutland, NHS Greater Manchester and NHS Hampshire and Isle of Wight) described some provision of fertility preservation (cryopreservation of oocytes or embryos) for women with uterine factor infertility, two of whom suggested their policy may include women with MRKH (NHS Greater Manchester and NHS Hampshire and Isle of Wight). Two ICBs (NHS Gloucester and NHS Bedford, Luton and Milton Keynes) explained that individual funding applications would be considered when made by clinicians on the patient's behalf, but no information was provided on how many times requests had been made and granted. The remaining 30 ICBs explained that no part of a surrogacy pregnancy would be funded, owing to concerns around commercial surrogacy, which is illegal in the UK. This work has revealed that only a small proportion of ICBs (7/42, 17%) treat women with MRKH like any other woman applying for NHS fertility treatment. The study revealed that decisions by ICBs not to fund IVF treatments based on concerns about commercial surrogacy create significant inequities. It unfairly penalises individuals with MRKH who require surrogacy as part of their fertility treatment. These individuals face a unique set of reproductive challenges, and denying them access to NHS-funded IVF treatments exacerbates existing inequalities. Furthermore, if individuals with MRKH accept that the expenses of the surrogate will be met by them rather than the ICB, it is unjustifiable to deny them the IVF component of the treatment if they meet all the other criteria for eligibility. Moreover, the fact that some ICBs do fund IVF for individuals with MRKH indicates that legal concerns regarding surrogacy are unfounded and inconsistently applied. This discrepancy highlights the need for a standardised approach that ensures equitable access to fertility treatments across all regions.
Mayer-Rokitansky-Kuster-Hauser syndrome.
•Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is the leading cause of vaginal agenesis. •It is characterized by primary amenorrhea with typical adrenarche and telarche and may be associated with congenital urological and skeletal conditions that should be investigated. •Differential diagnoses include: vaginal obstructions (imperforate hymen, distal vaginal atresia, transverse vaginal septum), uterine obstructions (cervical atresia), and differences in sexual development (gonadal dysgenesis, complete androgen insensitivity and congenital adrenal hyperplasia due to CYP17 deficiency). •Laboratory tests (testosterone, follicle-stimulating hormone [FSH] and karyotype) and radiological tests (pelvic ultrasound and MRI) are necessary. •Vaginal dilation is the first line of treatment with high success rates.
46, XX DSD with Atypical Genitalia: Clinical Insights and Diagnostic Approaches.
Congenital adrenal hyperplasia (CAH) is a rare disorder with autosomal recessive inheritance; it was historically known as adrenogenital syndrome. Patients with virilizing forms of CAH and a 46,XX karyotype present with varied degrees of hyperandrogenism due to different genetic defects in the adrenal steroidogenesis pathway. This comprehensive review describes a simplified diagnostic approach for patients with atypical genitalia and 46, XX DSD. It highlights the importance of a detailed history and clinical examination, with specific pointers toward the etiological diagnosis. There is a need for utilizing standardized liquid chromatography/tandem mass spectrometry (LC-MS/MS) assays to accurately diagnose these disorders of steroidogenesis. Choosing appropriate molecular testing methods has significant implications for establishing the diagnosis and providing genetic counseling.
Publicações recentes
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Sexual health and sexual well-being of women with Mayer-Rokitansky-Kuester-Hauser syndrome after vaginal reconstruction: a qualitative analysis.
Spectrum of Type I and Type II Syndromes and Associated Malformations in Chinese Patients with Mayer-Rokitansky-Küster-Hauser Syndrome: A Retrospective Analysis of 274 Cases.
Mullerian dysgenesis: a critical review of the literature.
An unusual cause of urinary incontinence: Urethral coitus in a case of Mayer-Rokitansky-Kuster-Hauser syndrome.
📚 EuropePMCmostrando 78
Prevalence of Anxiety and Depression in Women with Mayer-Rokitansky-Kϋster-Hauser (MRKH) Syndrome in Malaysia.
Journal of pediatric and adolescent gynecologyGenetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome.
Journal of medical geneticsWhat is the access to NHS fertility treatments for women with Mayer-Rokitansky-Küster-Hauser syndrome across England? A freedom of information study.
BMJ openMayer-Rokitansky-Kuster-Hauser syndrome.
Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia46, XX DSD with Atypical Genitalia: Clinical Insights and Diagnostic Approaches.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolismeSexual, relational, and psychological functioning in male partners of women with reported Mayer-Rokitansky-Küster-Hauser syndrome-a case-control study.
Human reproduction (Oxford, England)Davydov-Moore vaginoplasty in Mayer-Rokitansky-Küster-Hauser syndrome: sexual and surgical outcomes.
Archives of gynecology and obstetricsPsychiatric Comorbidities in Women With Complete Androgen Insensitivity Syndrome or Müllerian Duct Aplasia/Agenesis.
The Journal of clinical endocrinology and metabolismA Case Report on 46,XX Male Difference of Sex Development.
Cureus[Sexual functional outcomes of vaginal dilation therapy for MRKH syndrome: a prospective study].
Zhonghua fu chan ke za zhi[Adolescent female reproductive system dysplasia: a clinical study of 356 cases].
Zhonghua fu chan ke za zhiAttitudes toward uterus transplantation. An option for motherhood?
Acta obstetricia et gynecologica ScandinavicaSelf-esteem, depression, anxiety and sexual function in Mayer-Rokitansky-Küster-Hauser syndrome with neovagina: A case series.
European journal of obstetrics, gynecology, and reproductive biologyHeterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.
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Human reproduction (Oxford, England)[Place of ultrasound in the management of Mayer-Rokitansky-Kuster-Hauser syndrome. Observational study from 2000 to 2017 within university hospital of Strasbourg].
Gynecologie, obstetrique, fertilite & senologieLow prevalence of male microchimerism in women with Mayer-Rokitansky-Küster-Hauser syndrome.
Human reproduction (Oxford, England)Urogynecological and Sexual Functions after Vecchietti Reconstructive Surgery.
BioMed research internationalPrimary amenorrhoea secondary to two different syndromes: a case study.
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The International journal of artificial organsSexual satisfaction in patients with Mayer-Rokitansky-Küster-Hauser syndrome after surgical and non-surgical techniques: a systematic review.
International urogynecology journalSexual Experience before Treatment for Vaginal Agenesis: A Retrospective Review of 137 Women.
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Health care for women internationalSpectrum of Type I and Type II Syndromes and Associated Malformations in Chinese Patients with Mayer-Rokitansky-Küster-Hauser Syndrome: A Retrospective Analysis of 274 Cases.
Journal of pediatric and adolescent gynecologySurgery is not superior to dilation for the management of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome: a multicenter comparative observational study in 131 patients.
American journal of obstetrics and gynecologySexual response in women with Mayer-Rokitansky-Küster-Hauser syndrome with a nonsurgical neovagina.
American journal of obstetrics and gynecologyVaginal prevalence of human papillomavirus infections in women with uterovaginal aplasia before and after laparoscopically assisted creation of a neovagina: a prospective epidemiological observational study.
BJOG : an international journal of obstetrics and gynaecologyDiagnosis and Management of Ovarian Tumor in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome.
BioMed research internationalIncreased incidence of abnormally located ovary in patients with Mayer-Rokitansky-Küster-Hauser syndrome: a retrospective analysis with magnetic resonance imaging.
Abdominal radiology (New York)Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
American journal of human geneticsHyperandrogenemia and ovarian reserve in patients with Mayer-Rokitansky-Küster-Hauser syndrome type 1 and 2: potential influences on ovarian stimulation.
Archives of gynecology and obstetricsCytogenetic analysis of patients with primary amenorrhea in Eastern India.
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and GynaecologyIntensive vaginal dilation using adjuvant treatments in women with Mayer-Rokitansky-Kuster-Hauser syndrome: retrospective cohort study.
The Australian & New Zealand journal of obstetrics & gynaecologySequence variants in ESR1 and OXTR are associated with Mayer-Rokitansky-Küster-Hauser syndrome.
Acta obstetricia et gynecologica ScandinavicaEvaluation of Mayer-Rokitansky-Küster-Hauser syndrome with magnetic resonance imaging: Three patterns of uterine remnants and related anatomical features and clinical settings.
European radiologyAromatase deficiency in a male patient - Case report and review of the literature.
BonePrevalence and patient characteristics of Mayer-Rokitansky-Küster-Hauser syndrome: a nationwide registry-based study.
Human reproduction (Oxford, England)[CONSERVATIVE TREATMENT OF MAYER-ROKITANSKY-KÜSTER-HAUSER SYNDROME. REVIEW OF LITERATURE AND OUR EXPERIENCE].
Akusherstvo i ginekologiiaSexual activity of women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)--preliminary study.
Ginekologia polskaComparison of Two Techniques of Laparoscopy-Assisted Peritoneal Vaginoplasty.
Journal of minimally invasive gynecologyPeritoneal vaginoplasty by Luohu I and Luohu II technique: a comparative study of the outcomes.
European journal of medical research[Comparison study between Vecchietti's and Davydov's laparoscopic vaginoplasty in Mayer-Rokitansky-Küster-Hauser syndrome].
Zhonghua fu chan ke za zhiComparison of two laparoscopic peritoneal vaginoplasty techniques in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
International urogynecology journalLaparoscopic vaginoplasty using a single peritoneal flap: 10 years of experience in the creation of a neovagina in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
Fertility and sterilitySexual and Psychosocial Functioning in Women with MRKHS after Neovaginoplasty According to Wharton-Sheares-George: A Case Control Study.
PloS oneSexual and functional outcomes of vaginoplasty using acellular porcine small intestinal submucosa graft or laparoscopic peritoneal vaginoplasty: a comparative study.
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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.
- Prevalence of Anxiety and Depression in Women with Mayer-Rokitansky-Kϋster-Hauser (MRKH) Syndrome in Malaysia.
- Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome.
- What is the access to NHS fertility treatments for women with Mayer-Rokitansky-Küster-Hauser syndrome across England? A freedom of information study.
- Mayer-Rokitansky-Kuster-Hauser syndrome.Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia· 2025· PMID 40406045mais citado
- 46, XX DSD with Atypical Genitalia: Clinical Insights and Diagnostic Approaches.Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme· 2025· PMID 40043726mais citado
- Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
- Sexual health and sexual well-being of women with Mayer-Rokitansky-Kuester-Hauser syndrome after vaginal reconstruction: a qualitative analysis.
- Spectrum of Type I and Type II Syndromes and Associated Malformations in Chinese Patients with Mayer-Rokitansky-Küster-Hauser Syndrome: A Retrospective Analysis of 274 Cases.
- Mullerian dysgenesis: a critical review of the literature.
- An unusual cause of urinary incontinence: Urethral coitus in a case of Mayer-Rokitansky-Kuster-Hauser syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2973(Orphanet)
- MONDO:0017573(MONDO)
- GARD:18782(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55787196(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
