Condições que afetam pessoas com um conjunto de cromossomos típico de mulher (46,XX), caracterizadas por um desenvolvimento diferente em uma ou mais das seguintes partes: nas gônadas (os órgãos que produzem óvulos e hormônios), nas estruturas reprodutivas internas ou nas estruturas genitais externas.
Introdução
O que você precisa saber de cara
Condições que afetam pessoas com um conjunto de cromossomos típico de mulher (46,XX), caracterizadas por um desenvolvimento diferente em uma ou mais das seguintes partes: nas gônadas (os órgãos que produzem óvulos e hormônios), nas estruturas reprodutivas internas ou nas estruturas genitais externas.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 47 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 72 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
6 genes identificados com associação a esta condição.
Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors (PubMed:29769720). Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an import
SecretedNucleus
Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal
A recessive syndrome characterized by XX (female to male) SRY-independent sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin.
Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors
Nucleus
Panhypopituitarism X-linked
Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary.
Nuclear receptor that lacks a DNA-binding domain and acts as a corepressor that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions (PubMed:12482977, PubMed:32433991). Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis (PubMed:7990953, PubMed:8675564). May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity)
NucleusCytoplasm
Adrenal hypoplasia, congenital
A disorder of adrenal gland development characterized by absence of the permanent zone of the adrenal cortex, structural disorganization of the adrenal glands, adrenal insufficiency and profound hormonal deficiencies. AHC patients manifest primary adrenal failure usually in early infancy, and hypogonadotropic hypogonadism leading to absent or incomplete sexual maturation. AHC can be inherited in an X-linked or autosomal recessive pattern.
Transcriptional regulator that controls a genetic switch in male development (PubMed:11563911). It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (PubMed:16414182, PubMed:16996051). Involved in different aspects of gene regulation including promoter activation or repression (PubMed:9525897). Binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3' (PubMed:115639
Nucleus speckleCytoplasmNucleus
46,XY sex reversal 1
A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients manifest rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external genitalia in these subjects are completely female, and Muellerian structures are normal.
Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues (PubMed:27378692). Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1 (PubMed:27378692). The SFPQ-NONO-NR5A1 complex binds to the CYP17
Nucleus
46,XY sex reversal 3
A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.
Transcription factor that plays a key role in chondrocytes differentiation and skeletal development (PubMed:24038782). Specifically binds the 5'-ACAAAG-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes COL2A1, COL4A2, COL9A1, COL11A2 and ACAN, SOX5 and SOX6 (PubMed:8640233). Also binds to some promoter regions (By similarity). Plays a central role in successive steps of chondrocyte
Nucleus
Campomelic dysplasia
A rare, often lethal, osteochondrodysplasia characterized by congenital bowing and angulation of long bones. Other skeletal defects include unusually small scapula, deformed pelvis and spine, and a missing pair of ribs. Craniofacial and ear defects are common. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Up to two-thirds of affected XY individuals have genital defects or may develop as phenotypic females.
Variantes genéticas (ClinVar)
522 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
11 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença do desenvolvimento sexual 46,XX
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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
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.
Case Report: Challenges of an extremely delayed diagnosis of classic congenital adrenal hyperplasia in a completely virilized 46,XX patient.
Classic Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency is typically diagnosed in early life. We report a 46,XX completely virilized 46,XX patient who was diagnosed with classic CAH at the age of 73 years. He was under follow-up for prostate hyperplasia and referred after the finding of giant bilateral adrenal myelolipomas. He presented with hormonal values initially interpreted as suggestive of hypogonadotropic hypogonadism, prompting further biochemical and genetic analysis. Next-generation sequencing identified heterozygous variants in X-linked genes, uncovering a 46,XX difference of sex development (DSD). Then, CYP21A2 molecular analysis revealed compound heterozygosity for two pathogenic variants (p.I173N, p.R357W), confirming simple virilizing CAH. The patient's reticent attitude contributed to the diagnostic delay. However, this unique case reveals the challenges generated by the paraurethral glands hyperplasia - mimicking a prostate due to prolonged untreated hyperandrogenism - as well as the repeated failure to recognize Müllerian remnants on imaging and the critical issues related to diagnostic communication.
46,XX Testicular/Ovotesticular Disorders of Sexual Development: A Single-Center Retrospective Experience.
<p>Background: 46,XX testicular/ovotesticular disorders of sexual development (T/OT DSD) are infrequent congenital conditions characterized by the presence of functional ovarian and testicular or only testicular parenchyma. The aim of the study was to retrospectively describe clinical, hormonal, and genetic characteristics of 29 patients with 46,XX T/OT DSD (2000-2023), focusing on gonadal function, hormonal production, and long-term follow-up. Most patients (n = 25, 86.2%) presented with atypical genitalia that suggested DSD. Median age at first assessment was 0.38 years. Sex assignment was male in 21 patients without reports of discordant gender identity. Sex assignment was recommended before expert evaluation and without adequate studies in 64% of those patients with atypical genitalia (16/25). The median external masculinization score was 8 (range 4-12). During mini-puberty, LH, testosterone, AMH, and the LH/FSH ratio were above the female reference range and no different from the normal male reference range. Spontaneous puberty was observed in one female and 10 male-assigned subjects. Among the latter, pubertal virilization occurred with signs of hypergonadotropic hypogonadism and gynecomastia. Molecular studies identified the underlying mechanism in 7 patients: SRY gene was identified in two, WT1 gene variations were detected in three others, and 2 syndromic patients harbored complex chromosomal rearrangements. Our findings underscore the clinical and biochemical variability in 46,XX T/OT DSD. Expert evaluation and accurate diagnostic work-up are essential prior to sex assignment and to prevent misdiagnosis and inappropriate treatments. Mini-puberty was characterized by a masculinized pattern of gonadotropin secretion. The potential for functional male pubertal development should be taken into account when making sex assignment decisions. </p>.
Publicações recentes
46,XX Testicular/Ovotesticular Disorders of Sexual Development: A Single-Center Retrospective Experience.
LARS2-Related Perrault Syndrome in Siblings With 46,XY Differences of Sex Development.
Testicular differentiation in 46,XX DSD: an overview of genetic causes.
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.
Disorders of Sex Development in Office Practice.
📚 EuropePMCmostrando 142
Case Report: Challenges of an extremely delayed diagnosis of classic congenital adrenal hyperplasia in a completely virilized 46,XX patient.
Frontiers in endocrinologyPrevalence 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 genetics46,XX Testicular/Ovotesticular Disorders of Sexual Development: A Single-Center Retrospective Experience.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationWhat is the access to NHS fertility treatments for women with Mayer-Rokitansky-Küster-Hauser syndrome across England? A freedom of information study.
BMJ openEtiologies and clinical characteristics of primary amenorrhea: A study from a quaternary care hospital in southern Thailand.
The journal of obstetrics and gynaecology researchPrevalence of Differences of Sex Development Among Pediatric Endocrine Care Centers in Switzerland From 2000 to 2019.
Journal of the Endocrine SocietyRetrospective analysis of children with 46,XX testicular/ovotesticular DSD: a 10-year single-center experience.
Frontiers in endocrinologyMayer-Rokitansky-Kuster-Hauser syndrome.
Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e ObstetriciaLARS2-Related Perrault Syndrome in Siblings With 46,XY Differences of Sex Development.
American journal of medical genetics. Part A46, XX DSD with Atypical Genitalia: Clinical Insights and Diagnostic Approaches.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolismeCase Report and Literature Review: A 46,XX Infant with Atypical Genitalia Diagnosed with Primary Ovarian Insufficiency Caused by HFM1 Gene Variants.
Hormone research in paediatricsPhenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and Diagnosis.
The Journal of clinical endocrinology and metabolismSexual, 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 obstetricsExperiences and psychological issues affecting parents of children born with atypical genitalia in India.
Journal of pediatric endocrinology & metabolism : JPEMPsychiatric Comorbidities in Women With Complete Androgen Insensitivity Syndrome or Müllerian Duct Aplasia/Agenesis.
The Journal of clinical endocrinology and metabolismIntegration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development.
Biology of sex differencesA Case Report on 46,XX Male Difference of Sex Development.
Cureus[Genetic and clinical characteristics of 46,XX testicular disorders of sex development].
Zhonghua nan ke xue = National journal of andrology[Sexual functional outcomes of vaginal dilation therapy for MRKH syndrome: a prospective study].
Zhonghua fu chan ke za zhiA multicenter analysis of individuals with a 47,XXY/46,XX karyotype.
Genetics in medicine : official journal of the American College of Medical GeneticsA homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome.
European journal of obstetrics, gynecology, and reproductive biologyDiagnosis and management of non-CAH 46,XX disorders/differences in sex development.
Frontiers in endocrinology[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 ScandinavicaLong-term outcomes in non-CAH 46,XX DSD.
Frontiers in endocrinologySelf-esteem, depression, anxiety and sexual function in Mayer-Rokitansky-Küster-Hauser syndrome with neovagina: A case series.
European journal of obstetrics, gynecology, and reproductive biologyTesticular differentiation in 46,XX DSD: an overview of genetic causes.
Frontiers in endocrinologyHeterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.
Molecular and cellular endocrinologyAromatase deficiency in transplanted bone marrow cells improves vertebral trabecular bone quantity, connectivity, and mineralization and decreases cortical porosity in murine bone marrow transplant recipients.
PloS oneHistological Features of Neovaginal Epithelium after Vaginoplasty in Mayer-Rokitansky-Küster-Hauser Syndrome.
Journal of pediatric and adolescent gynecologyCOUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors.
Cell & bioscienceAlternative Biological Material for Tissue Engineering of the Vagina: Porcine-Derived Acellular Vaginal Matrix.
Tissue engineering and regenerative medicineEarly Diagnosis of 46,XX Testicular Difference of Sexual Development: Unusual Presentation with Increased Nuchal Translucency.
Fetal and pediatric pathologyThe smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.
American journal of medical genetics. Part ADisorders of Sex Development in Office Practice.
Indian journal of pediatricsEvaluation of Sexual Function Outcomes in Patients with Rokitansky Syndrome: A Systematic Review and Meta-analysis.
Journal of minimally invasive gynecologyGenetic control of typical and atypical sex development.
Nature reviews. UrologyCategorization of differences of sex development among Egyptian children and the role of antimullerian hormone and inhibin B.
Frontiers in endocrinologyNeovagina in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: Vaginoplasty Using Ileal Flap.
Acta medica portuguesaUpdate on Mayer-Rokitansky-Küster-Hauser syndrome.
Frontiers of medicineMRI presentations of Müllerian duct anomalies in association with unilateral renal agenesis.
Clinical radiologyLaparoscopic removal of bilateral uterine remnants for symptomatic unilateral leiomyomas in a patient with Müllerian agenesis.
Fertility and sterilityThree-dimensional Printer Molds for Vaginal Agenesis: An Individualized Approach as Conservative Treatment.
Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e ObstetriciaEvidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
AndrologySexual and Psychosocial Outcome After Neovaginoplasty Using Interceed in Females with Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGCComparison of Sheares vaginoplasty, vaginoplasty using acellular porcine small intestinal submucosa graft and laparoscopic peritoneal vaginoplasty in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
International urogynecology journalComparison of the modified laparoscopic Vecchietti and Davydov colpoplasty techniques in Mayer-Rokitansky-Küster-Hauser syndrome: A long-term follow-up analysis.
The journal of obstetrics and gynaecology researchDisorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.
Frontiers in endocrinologyMicroRNAs May Play an Important Role in Sexual Reversal Process of Chinese Soft-Shelled Turtle, Pelodiscus sinensis.
GenesExpanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.
Clinical geneticsUterus transplantation worldwide: clinical activities and outcomes.
Current opinion in organ transplantationTreatment for vaginal agenesis: A prospective and comparative study between vaginal dilation and surgical neovaginoplasty.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics46,XX DSD: Developmental, Clinical and Genetic Aspects.
Diagnostics (Basel, Switzerland)WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationA case of neovagina surgical creation using the uterine cervix remnant in a patient with Mayer-Rokitansky-Küster-Hauser syndrome.
Fertility and sterilityThe Effect of Psychosexual Education on Promoting Sexual Function, Genital Self-Image, and Sexual Distress among Women with Rokitansky Syndrome: A Randomized Controlled Clinical Trial.
Journal of pediatric and adolescent gynecologyThe laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): I) Physiology, classification, approach, and methodologyII) Biochemical and genetic markers in 46,XX DSD.
Advances in laboratory medicineComparison of two laparoscopic vaginoplasties using a single peritoneal flap in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
International urogynecology journalSexuality in women with Mayer-Rokitansky-Küster-Hauser syndrome.
Ceska gynekologieThe Rare, Unexpected Condition of a Twisted Leiomyoma in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: Etiopathogenesis, Diagnosis and Management. Our Experience and Narrative Review of the Literature.
International journal of environmental research and public healthStudy and evaluation of neovagina epithelium.
JBRA assisted reproductionWhole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development.
American journal of medical genetics. Part AErectile function in SRY positive 46,XX males with normal phenotype.
Central European journal of urologyNew Advances in Transplants and Bioengineering Aid in Replacing the Womb.
IEEE pulseThe Peritoneal Neovagina after Davydov's Laparoscopic Procedure in Mayer-Rokitansky-Küster-Hauser Syndrome: Morphology and Ultrastructure Investigation of the New Epithelium.
Journal of minimally invasive gynecologyVaginoplasty: modified McIndoe using xenograft and a tailored 3D-printer mold.
International urogynecology journalPrevalence of urinary, prolapse, and bowel symptoms in Mayer-Rokitansky-Küster-Hauser syndrome.
American journal of obstetrics and gynecologySurgical Video Tutorial: Treatment of Congenital Vaginal Agenesis: Laparoscopic Modified Davydov in 8 Steps.
Journal of minimally invasive gynecologyEffects of different vaginal mould use approaches after vaginoplasty with artificial dermis in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
The Journal of international medical researchSRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.
Clinical endocrinologyAnthropometric biomarkers for abnormal prenatal reproductive hormone exposure in women with Mayer-Rokitanksy-Küster-Hauser syndrome, polycystic ovary syndrome, and endometriosis.
Fertility and sterilityA Case of Mayer-Rokitansky-Küster-Hauser Syndrome Diagnosed in Infancy after Evaluation of Palpable Gonads.
Journal of pediatric and adolescent gynecologyRare genital malformations in women's health research: sociodemographic, regional, and disease-related characteristics of patients with Mayer-Rokitansky-Küster-Hauser syndrome.
BMC women's healthTestis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.
Proceedings of the National Academy of Sciences of the United States of AmericaSexual function and quality of life after the creation of a neovagina in women with Mayer-Rokitansky-Küster-Hauser syndrome: comparison of vaginal dilation and surgical procedures.
Fertility and sterilityNeovagina Creation: A Novel Improved Laparoscopic Vecchietti Procedure in Patients with Mayer-Rokitansky-Küster-Hauster Syndrome.
Journal of minimally invasive gynecologyOligogenic Origin of Differences of Sex Development in Humans.
International journal of molecular sciencesMayer-Rokitansky-Küster-Hauser syndrome - case studies, methods of treatment and the future prospects of human uterus transplantation.
European review for medical and pharmacological sciencesA rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene.
Gynecological endocrinology : the official journal of the International Society of Gynecological EndocrinologySyndrome Mayer-Rokitansky-Küster-Hauser - uterine and vaginal agenesis: current knowledge and therapeutic options.
Ceska gynekologiePostoperative evaluation of chronic pain in patients with Mayer - Rokitansky - Küster - Hauser (MRKH) syndrome and uterine horn remnant: Experience of a tertiary referring gynaecological department.
Journal of gynecology obstetrics and human reproductionIndependent Origin of XY and ZW Sex Determination Mechanisms in Mosquitofish Sister Species.
GeneticsThe Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene.
Journal of the Endocrine SocietyComparison of neovaginoplasty using acellular porcine small intestinal submucosa graft or Interceed in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
Archives of gynecology and obstetricsSimilar Cause, Different Phenotype: SOX9 Enhancer Duplication in a Family.
Hormone research in paediatrics46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.
International journal of molecular sciencesA Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report.
Journal of clinical research in pediatric endocrinologySexual functioning, sexual esteem, genital self-image and psychological and relational functioning in women with Mayer-Rokitansky-Küster-Hauser syndrome: a case-control study.
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 & senologieXX sex chromosome complement promotes atherosclerosis in mice.
Nature communicationsLow prevalence of male microchimerism in women with Mayer-Rokitansky-Küster-Hauser syndrome.
Human reproduction (Oxford, England)Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene.
Journal of clinical research in pediatric endocrinologyUrogynecological and Sexual Functions after Vecchietti Reconstructive Surgery.
BioMed research internationalPrimary amenorrhoea secondary to two different syndromes: a case study.
BMJ case reportsTissue-engineered solution containing cells and biomaterials-an in vitro study: A perspective as a novel therapeutic application.
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.
Journal of pediatric and adolescent gynecologyTri-allelic expression of HLA gene in 46,XX/46,XY chimerism.
Transplant immunologyExosomes derived from human umbilical cord mesenchymal stem cells accelerate growth of VK2 vaginal epithelial cells through MicroRNAs in vitro.
Human reproduction (Oxford, England)Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.
Nature communicationsLiving with permanent infertility: A German study on attitudes toward motherhood in individuals with Complete Androgen Insensitivity Syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS).
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 gynecology[Disorders of sexual differentiation in children: a critical look at open questions (part II)].
Urologiia (Moscow, Russia : 1999)Sexual 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 geneticsPhenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationMutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Human molecular 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 & gynaecologyMultiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationSequence 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 radiology17α-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsSteroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'.
European journal of endocrinologyRapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment.
Hormone research in paediatrics46,XX males: a case series based on clinical and genetics evaluation.
Andrologia[Analysis of clinical features and related genes variation in five patients with 46, XX male syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatricsAromatase 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 ginekologiiaAndrogen induces gonadal soma-derived factor, Gsdf, in XX gonads correlated to sex-reversal but not Dmrt1 directly, in the teleost fish, northern medaka (Oryzias sakaizumii).
Molecular and cellular endocrinologyEffects of feminizing reconstructive surgery on sexual function and genital sensitivity in patients with female pseudohermaphroditism versus healthy control.
International urology and nephrologySexual 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 gynecologyPure gonadal dysgenesis (46 XX type) with a familial pattern.
Advanced biomedical researchPeritoneal vaginoplasty by Luohu I and Luohu II technique: a comparative study of the outcomes.
European journal of medical researchCharacterizing Early Psychosocial Functioning of Parents of Children with Moderate to Severe Genital Ambiguity due to Disorders of Sex Development.
The Journal of urologyGender Role, Gender Identity and Sexual Orientation in CAIS ("XY-Women") Compared With Subfertile and Infertile 46,XX Women.
Journal of sex research[Comparison study between Vecchietti's and Davydov's laparoscopic vaginoplasty in Mayer-Rokitansky-Küster-Hauser syndrome].
Zhonghua fu chan ke za zhiComparison of markers of ovarian reserve between patients with complete müllerian agenesis and age-matched fertile and infertile controls.
Fertility and sterilityComparison 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 oneFemale pseudohermaphroditism: strategy and bias in a fast diagnosis. How tricky could be a diagnosis with a wrong anamnesis.
Annali italiani di chirurgiaSexual and functional outcomes of vaginoplasty using acellular porcine small intestinal submucosa graft or laparoscopic peritoneal vaginoplasty: a comparative study.
Human reproduction (Oxford, England)Associações
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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.
- 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.
- Case Report: Challenges of an extremely delayed diagnosis of classic congenital adrenal hyperplasia in a completely virilized 46,XX patient.
- 46,XX Testicular/Ovotesticular Disorders of Sexual Development: A Single-Center Retrospective Experience.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation· 2025· PMID 41170606mais citado
- LARS2-Related Perrault Syndrome in Siblings With 46,XY Differences of Sex Development.
- Testicular differentiation in 46,XX DSD: an overview of genetic causes.
- The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.
- Disorders of Sex Development in Office Practice.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2982(Orphanet)
- MONDO:0017576(MONDO)
- GARD:18783(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q54946913(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.
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