Raras
Buscar doenças, sintomas, genes...
Atresia da vagina
ORPHA:65681CID-10 · Q52.0CID-11 · LB42.5DOENÇA RARA

A Síndrome de McKusick-Kaufman é uma doença autossômica recessiva associada à proteína MKKS. Esta doença foi nomeada pelo médico Dr. Robert L. Kaufman e pelo médico Victor McKusick. Às vezes, recebe a abreviação de MKS. Durante a infância, o diagnóstico torna-se difícil devido às semelhanças da síndrome de McKusick-Kaufman com a síndrome de Bardet-Biedl.

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Introdução

O que você precisa saber de cara

📋

Atresia vaginal é uma condição rara caracterizada pela ausência ou estreitamento completo do canal vaginal, muitas vezes associada a anomalias uterinas como útero didelfo ou bicorno. Pode manifestar-se como massa pélvica ou abdominal e dor, sendo um defeito congênito.

Publicações científicas
346 artigos
Último publicado: 2026 Feb

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Childhood
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PE, BA, CE, PB +10CID-10: Q52.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🫃
Digestivo
2 sintomas
🫘
Rins
1 sintomas

+ 9 sintomas em outras categorias

Características mais comuns

100%prev.
Atresia vaginal
55%prev.
Hímen imperfurado
Frequente (79-30%)
55%prev.
Massa pélvica
Frequente (79-30%)
55%prev.
Anormalidade do útero
Frequente (79-30%)
55%prev.
Dor abdominal
Frequente (79-30%)
55%prev.
Massa abdominal
Frequente (79-30%)
12sintomas
Muito frequente (1)
Frequente (6)
Ocasional (3)
Muito raro (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 características clínicas mais associadas, ordenadas por frequência.

Atresia vaginalVaginal atresia
Muito frequente100%
Hímen imperfuradoImperforate hymen
Frequente (79-30%)55%
Massa pélvicaPelvic mass
Frequente (79-30%)55%
Anormalidade do úteroAbnormality of the uterus
Frequente (79-30%)55%
Dor abdominalAbdominal pain
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico346PubMed
Últimos 10 anos112publicações
Pico202417 papers
Linha do tempo
2026Hoje · 2026📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Atresia da vagina

Centros de Referência SUS

24 centros habilitados pelo SUS para Atresia da vagina

Centros para Atresia da vagina

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

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

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

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

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

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

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

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

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

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

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

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

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

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

Serviço de Referência

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

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

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Publicações mais relevantes

Timeline de publicações
112 papers (10 anos)
#1

Intrapartum posterior cul-de-sac rupture, a clinical enigma: a case report.

International journal of surgery case reports2026 Feb

Posterior cul-de-sac rupture is a rare intrapartum complication with non-specific symptoms that impede timely diagnosis. Reported risk factors include genital tract anomalies, prior pelvic infection, cesarean scar, and pharmacologic induction (e.g., misoprostol). A 29-year-old primigravida presented at our Obstetrics and Gynecology department with fetal growth restriction at 38 weeks of gestation. Ultrasound revealed fetal growth restriction (an estimated fetal weight of 2196 g, <10th percentile), a single umbilical artery, and normal Doppler findings. Her cervical os was closed, so labor was induced with mifepristone followed by misoprostol. This was followed by spontaneous rupture of membranes. An emergency cesarean section was performed due to fetal distress, revealing a 5-cm tear extending from the pouch of Douglas to the cervicovaginal junction, repaired in layers. Postoperative antibiotics were administered, and she recovered well, with follow-up scheduled after 6 weeks. Intrapartum rupture of the posterior cul-de-sac during induced labor is rare. Various circumstances have been associated with posterior vaginal wall ruptures, including vaginal atresia and previous pelvic infections. Despite the absence of identifiable risk factors, induction with misoprostol may have contributed to the rupture. A hallmark symptom is severe abdominal pain, which warrants attention even without known risk factors. Therefore, vigilance is crucial for diagnosing concealed vaginal wall ruptures during labor, particularly in the context of unexplained severe pain. It is crucial to suspect the possibility of a hidden vaginal wall rupture during labor, particularly when there is unexplained acute pain. Future studies should compare outcomes across parity groups and evaluate induction-related risk.

#2

Difficult Management of a Rare Case of Distal Vaginal Atresia in an Adolescent.

Cureus2026 Jan

A transverse vaginal septum is a rare congenital anomaly that can present with primary amenorrhea and cyclic pelvic pain due to obstructive Müllerian malformation. We report the case of a 16-year-old adolescent who presented with primary amenorrhea and eight months of progressive cyclic lower abdominal pain. Physical examination revealed normal secondary sexual characteristics. Hormonal evaluation confirmed normal hypothalamic-pituitary-ovarian axis function. Pelvic MRI demonstrated hematometra and hematocolpos with a thin, regular vaginal septum and an associated distal vaginal agenesis component. Initial surgical correction was performed via vaginal approach, involving circumferential incision of the obstructive septum, controlled drainage of retained menstrual blood, complete excision of septal tissue, and end-to-end mucosal anastomosis. Despite initial resolution of symptoms and establishment of normal menstrual flow, the patient experienced recurrent obstruction at two months postoperatively, requiring vaginal dilation. At four months, she developed pelvic sepsis from infected hematocolpos, necessitating surgical revision with fibrotic tissue excision and attempted vaginal mold placement, which was poorly tolerated and removed after four days. This case highlights the challenging nature of complete transverse vaginal septum management, particularly when associated with distal vaginal agenesis. Despite appropriate initial surgical correction, a significant risk of stenosis, recurrent obstruction, and infectious complications exists, necessitating close postoperative surveillance and readiness for multiple interventions to achieve satisfactory long-term outcomes.

#3

Versatility of contrast enhanced colosonography for pre-operative evaluation of anorectal malformation with fistula.

Journal of pediatric surgery2026 Jan

Anorectal malformations (ARM) with fistulae require anatomic definition of the fistula and distal extent of the rectum relative to the coccyx prior to posterior sagittal anorectoplasty (PSARP). We previously validated contrast enhanced colosonography (CECS) as a safe and accurate modality to characterize ARM. The purpose of this study is to evaluate the application of CECS in various clinical settings and its reliability in the newborn population. We performed a single-center retrospective case series of 50 patients with ARM who underwent evaluation with CECS from 2016-2024. All patients underwent staged reconstruction with an ostomy. CECS findings were compared to intra-operative findings to evaluate accuracy. CECS accurately identified the presence and level of fistula, and position of the distal colon relative to the coccyx in 100% of patients: no fistula (n=8), bulbar rectourethral fistula (n=16), prostatic rectourethral fistula (n=22), bladder neck fistula (n=2), rectovestibular fistula with vaginal atresia (n=1), complex rectourethral fistula (n=1). CECS was performed on inpatient newborns (< 31d) (n=7), inpatient infants (n=11), outpatient infants (n=26), and infants in the operating room (n=6). No newborns developed surgical site infections or mucous fistula stricture from early manipulation. CECS allowed for concurrent spinal (n=10) and renal (n=15) ultrasounds, and contrastenhanced voiding urosonography (n=11). CECS is safe and reliable for pre-operative characterization of ARM with fistula. It can be performed in various clinical settings on newborns and infants, allowing for early prognostication, operative planning, and comprehensive counseling. CECS offers an advantage in its ability to perform concurrent VACTERL screening.

#4

MRI-based Stratification and Surgical Management of Hydrocolpos in Children and Adolescents.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie2026 Apr

In this report we present a new anatomical stratification for vaginal obstruction (hydrocolpos) based on MRI findings while referring the level of obstruction to a fixed bony landmark (the pubic symphysis). This new approach can overcome the limitations of current classifications, which are prone to approximation errors during measurement and fail to account for variations in body mass across different age groups.Data of cases diagnosed with vaginal obstruction were retrospectively analyzed. Cases of cloaca with vaginal obstruction were excluded. MRI confirmed the diagnosis and enabled classification of the level of vaginal obstruction relative to the pubic symphysis in the mid-sagittal plane as low, intermediate, or high-opposite the lower, mid, or upper end of the pubic symphysis, respectively.A total of 13 girls presented with vaginal obstruction during the period 2010 through 2024. Their age ranged between 1 month and 14 years (mean: 54 months; median: 18 months). Three cases presented in the neonatal period with antenatal diagnosis of hydrocolpos, while six cases were referred later during infancy/childhood from other centers. Another group of adolescent girls (four cases) presented with a clinical picture of cryptomenorrhea. The cause of vaginal obstruction was imperforate hymen in one, vaginal atresia in six, persistent urogenital sinus (five cases), and one case of obstructed hemi-vagina. In this series, six cases (46%) had features related to genetic syndromes (Bardet Biedl/ McKusick-Kaufman spectrum). Chronic parenchymatous renal disease was present in three cases among other syndromic features of Bardet Biedl syndrome, in addition to another case with obstructed left hemi-vagina that had absent left kidney (Herlyn-Werner-Wunderlich syndrome). Surgical techniques included simple excision of distal obstructing membrane (four cases), abdominal assisted vaginoplasty (two cases), vaginal pull-through (four cases), simple introitoplasty (one case), urogenital sinus mobilization (one case), and division of longitudinal vaginal septum for a case of obstructed hemi-vagina. Vaginal stenosis or retraction occurred in three cases with intermediate to high-level obstruction-two following abdominal assisted vaginoplasty and one after vaginal pull-through.MRI-based stratification of vaginal obstruction using the pubic symphysis as a reference provides a practical and reproducible approach for surgical planning.This is a case series (level IV evidence).

#5

Laparoscopic Evacuation of Hematometrocolpos in a Didelphys Uterus With Distal Vaginal Atresia.

Journal of minimally invasive gynecology2026 Feb

Publicações recentes

Ver todas no PubMed

📚 EuropePMC159 artigos no totalmostrando 110

2026

Intrapartum posterior cul-de-sac rupture, a clinical enigma: a case report.

International journal of surgery case reports
2026

Difficult Management of a Rare Case of Distal Vaginal Atresia in an Adolescent.

Cureus
2025

Four-point vaginal reconstruction versus conventional suturing techniques for the treatment of congenital vaginal atresia: a prospective randomized controlled trial.

Frontiers in pediatrics
2025

Vaginal considerations in anorectal malformations: Current opinions.

Seminars in pediatric surgery
2026

Versatility of contrast enhanced colosonography for pre-operative evaluation of anorectal malformation with fistula.

Journal of pediatric surgery
2025

Transperineal Mechanical Thrombectomy and Thrombolysis for Hematometrocolpos in a Pediatric Patient with Distal Vaginal Atresia.

Journal of vascular and interventional radiology : JVIR
2026

MRI-based Stratification and Surgical Management of Hydrocolpos in Children and Adolescents.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2025

Intestinal Atresia in PPP1R12A -Related Urogenital and Brain Malformation Syndrome.

American journal of medical genetics. Part A
2025

Whole-disease-cycle management in a collaborative care model based on the WeChat platform: A case report.

Medicine
2025

Restore the Continuity of Uterus-Cervix-Vagina for Cervical Restenosis after Cervicovaginal Reconstruction: A Case Report.

Gynecology and minimally invasive therapy
2025

Prenatal Phenotyping of Fetal Congenital Adrenal Hyperplasia: Applying the Prader Scale to a Fetus.

Journal of medical ultrasound
2025

Mayer-Rokitansky-Kuster-Hauser syndrome.

Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia
2025

An innovative and effective approach of cervical canal penetration in patients diagnosed with type II vaginal atresia with adequate uterine corpus development: A case series.

Current urology
2026

Laparoscopic Evacuation of Hematometrocolpos in a Didelphys Uterus With Distal Vaginal Atresia.

Journal of minimally invasive gynecology
2025

Case Report: a novel variant in WT1 leads to focal segmental glomerulosclerosis and uterovaginal anomalies through exon skipping.

Frontiers in nephrology
2025

Intra- and extra-uterine diagnosis and treatment of peripartum imperforate hymen: a case report.

Frontiers in pediatrics
2025

Uterovaginal Anomalies in Pediatric Patients.

Journal of Indian Association of Pediatric Surgeons
2025

Recent Advances in Vaginal Atresia: A Literature Review.

Biomedicines
2024

Type I congenital vaginal atresia with multiple organ malformations.

Ceska gynekologie
2025

Hidden obstruction: A rare case of hematometrocolpos in a young adolescent with vaginal atresia.

Radiology case reports
2024

MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME. LAPAROSCOPIC SIGMOID VAGINOPLASTY FOR THE TREATMENT OF VAGINAL AGENESIS - SINGLE CENTER EXPERIENCE IN GEORGIA. CASE REPORT.

Georgian medical news
2024

Congenital Abnormalities Causing Hematocolpos: A Pictorial Essay.

Journal of the Belgian Society of Radiology
2024

Neonatal Hydrocolpos in Bardet-Biedl Syndrome due to a Novel Frameshift Indel in the BBS10 Gene.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2024

Tubal replacement of cervix for treatment of type II vaginal atresia complicated with cervical dysplasia: a case report.

The Journal of international medical research
2024

A case of Herlyn-Werner-Wunderlich syndrome with exacerbation of hematometra after adnexectomy.

Asian journal of endoscopic surgery
2024

A new magnetic resonance imaging-based PUMCH classification system for congenital cervical malformations: devising a standardised diagnosis pathway.

Insights into imaging
2024

Management of congenital cervical atresia with vaginal aplasia: A case report and review of the literature.

International journal of surgery case reports
2024

Histologic Analysis of 'Distraction Vaginogenesis' in a Rat Model.

Pathophysiology : the official journal of the International Society for Pathophysiology
2024

Efficacy and safety of laparoscopic vaginoplasty with peritoneal flaps and cervicoplasty in patients with congenital cervical and complete vaginal atresia: a pilot study.

Quantitative imaging in medicine and surgery
2024

A Rare Case of Hematometrocolpos due to Transverse Vaginal Septum along with Distal Vaginal Atresia in an Adolescent Girl.

Journal of the West African College of Surgeons
2024

Clinical features and management of women with Mayer-Rokitansky-Küster-Hauser syndrome in a Thai population.

Obstetrics &amp; gynecology science
2024

A case of image-guided hematometrocolpos drainage requiring tissue plasminogen activator in a pediatric patient.

Journal of surgical case reports
2024

A 13-Year-Old Girl with Caudal Regression Syndrome and Distal Vaginal Atresia: A Case Report.

The American journal of case reports
2023

Two-balloon epistaxis catheter to ensure vaginal patency in a complex case of vaginoplasty for vaginal agenesis: a case report.

La Pediatria medica e chirurgica : Medical and surgical pediatrics
2024

Laparoscopic-assisted neo-cervico-vaginal anastomosis and neo-vagina creation in congenital atresia: A retrospective study measuring the outcome and success.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2023

A Rare Case of Vaginal Atresia in an Adolescent Girl Presenting With Abdominal Pain.

Cureus
2024

Successful Use of Acellular Small Intestinal Submucosa Graft in Vaginal Reconstruction.

Journal of pediatric surgery
2024

Neonatal Single-Stage Surgical Management of Complicated Distal Vaginal Atresia: Revisiting an Appropriate and Feasible Technique.

Journal of pediatric and adolescent gynecology
2023

A Catastrophic Outcome of Ineffectual Episiotomy Causing Acquired Vaginal Atresia: A Case Report.

Cureus
2023

Efficacy and safety of laparoscopic vaginoplasty using the peritoneal flap and cervicoplasty in patients with congenital cervical and complete vaginal atresia: a pilot study.

Annals of translational medicine
2023

'Distraction Vaginogenesis': Preliminary Results Using a Novel Method for Vaginal Canal Expansion in Rats.

Bioengineering (Basel, Switzerland)
2023

Prenatal hydrometrocolpos as an unusual finding in Fraser syndrome. Case report.

Case reports in perinatal medicine
2022

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.

Genes
2022

3D printing technique applied in vaginoplasty: A case report.

Heliyon
2022

Clinical and Genetic Characteristics of a Cohort with Distal Vaginal Atresia.

International journal of molecular sciences
2022

Distal vaginal agenesis and differential diagnosis of other causes of hematocolpos.

Ceska gynekologie
2023

Reconstructive surgery for congenital atresia of the uterine cervix: a systematic review.

Archives of gynecology and obstetrics
2022

Managing the triad of triple mullerian anomaly, endometriosis and adenomyosis - A case report.

International journal of surgery case reports
2022

Spontaneous intrapartum Posterior Cul-de-sac rupture: A case report and literature review.

Annals of medicine and surgery (2012)
2023

Comparison of two different methods for cervicovaginal reconstruction: a long-term follow-up.

International urogynecology journal
2022

Distal vaginal atresia: a report of a rare type found a late-term fetus and its histological comparison with the normal pelvis.

Anatomy &amp; cell biology
2023

Does presence of a VACTERL anomaly predict an associated gynecologic anomaly in females with anorectal malformations?: A Pediatric Colorectal and Pelvic Learning Consortium Study.

Journal of pediatric surgery
2023

Minimally invasive vaginal approach to the uterovestibular anastomosis for cervicovaginal aplasia: a case series and review of literature.

Archives of gynecology and obstetrics
2022

First-Line Therapy for Vaginal Atresia. Conservative Treatment vs Surgical Techniques: Quandaries Looking at Numbers.

Journal of pediatric and adolescent gynecology
2022

Diagnosis and Management of Mullerian Anomalies Across Differing Resource Settings: Worldwide Adaptations.

Journal of pediatric and adolescent gynecology
2022

Endoluminal Silicone-Covered Stenting in Children: Novel Applications and Lessons Learned.

The American surgeon
2022

Clinical Quiz-Newborn Female with an Anorectal Malformation and a Gynecological Abnormality.

European journal of pediatric surgery reports
2022

Pyocolpos: A rare cause of recurrent abdominal pain - Always insist on a thorough physical examination.

Radiology case reports
2022

Modified balloon vaginoplasty for high position vaginal atresia.

Pediatric surgery international
2022

Distal Vaginal Atresia with Spontaneous Perforation: A Case Report.

Journal of pediatric and adolescent gynecology
2021

An approach to giant neonatal hydrocolpos with normally sited anus - Diagnosis and management including a novel one stage operation.

Journal of pediatric urology
2021

Secondary pyosalpinx after reconstructive surgery of vaginal agenesis patient with bilateral hematosalpinx: A case report.

International journal of surgery case reports
2021

ADAMTS18 regulates vaginal opening through influencing the fusion of Mullerian duct and apoptosis of vaginal epithelial cells in mice.

Reproductive biology
2021

Vaginal Atresia with Cervical Agenesis, a Rare Congenital Malformation.

Kathmandu University medical journal (KUMJ)
2021

Clinical features of congenital complete vaginal atresia combined with cervical aplasia: A retrospective study of 19 patients and literature review.

Congenital anomalies
2021

Secondary vaginal atresia following caesarean section: an unreported entity.

BMJ case reports
2021

Robotic assisted ileo-vaginoplasty for vaginal atresia.

Journal of pediatric urology
2021

Laparoscopically Assisted Uterovaginal Canalization and Vaginoplasty for Patients with Congenital Cervical and Vaginal Atresia: A Step-by-step Guide and Long-term Outcomes.

Journal of minimally invasive gynecology
2020

Congenital vaginal atresia: about an uncommon case.

The Pan African medical journal
2021

Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin.

Journal of clinical research in pediatric endocrinology
2020

Winter syndrome: about an uncommon case report.

BMC women's health
2020

Management of partial vaginal agenesis according to the Wharton-Sheares-George technique - a long-term follow-up.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
2019

Vaginal reconstruction for distal vaginal atresia without anorectal malformation: is the approach different?

Pediatric surgery international
2019

Whole-Exome Sequencing Identified a TBX6 Loss of Function Mutation in a Patient with Distal Vaginal Atresia.

Journal of pediatric and adolescent gynecology
2019

Diagnosis and Management of Hymenal Variants: ACOG Committee Opinion, Number 780.

Obstetrics and gynecology
2019

Management of Acute Obstructive Uterovaginal Anomalies: ACOG Committee Opinion, Number 779.

Obstetrics and gynecology
2019

Diagnosis and Management of Hymenal Variants: ACOG Committee Opinion Summary, Number 780.

Obstetrics and gynecology
2019

Management of Acute Obstructive Uterovaginal Anomalies: ACOG Committee Opinion Summary, Number 779.

Obstetrics and gynecology
2019

MRI features and differential diagnoses of congenital vaginal atresia.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
2018

Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia: A case report.

Medicine
2018

Congenital vesicouterine fistulas-A PRISMA-compliant systematic review.

Neurourology and urodynamics
2018

Functioning left uterine horn with cervico-vaginal atresia and ovarian maldescent - an unclassified Müllerian anomaly treated with horn-vaginal anastomosis.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
2018

Vaginal atresia and cervical agenesis combined with asymmetric septate uterus: A case report of a new genital malformation and literature review.

Medicine
2018

[Chinese expert consensus on the diagnosis and treatment of Herlyn-Werner-Wunderlich syndrome, Mayer-Rokitansky-Küster-Hauser syndrome and vaginal atresia].

Zhonghua fu chan ke za zhi
2017

Congenital vaginal atresia: A report of 39 cases in a regional Obstetrics and Gynecology Hospital.

Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban
2018

Hydrometrocolpos etiology and management: past beckons the present.

Pediatric surgery international
2017

Imperforate Hymen: Varied Presentation, New Associations, and Management.

Journal of Indian Association of Pediatric Surgeons
2017

Clinical features and surgical procedures of congenital vaginal atresia-A retrospective study of 67 patients.

European journal of obstetrics, gynecology, and reproductive biology
2017

Successful vaginal delivery at term after vaginal reconstruction with labium minus flaps in a patient with vaginal atresia: A rare case report.

The journal of obstetrics and gynaecology research
2017

Outcomes in patients undergoing robotic reconstructive uterovaginal anastomosis of congenital cervical and vaginal atresia.

The international journal of medical robotics + computer assisted surgery : MRCAS
2017

MRI in the evaluation of obstructive reproductive tract anomalies in paediatric patients.

Clinical radiology
2016

[Gynecological abnormalities in patients with rectovestibular fistula].

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2016

The Herlyn-Werner-Wunderlich Syndrome - A Case Report with Radiological Review.

Polish journal of radiology
2017

Menstrual, Sexual, and Obstetrical Outcomes after Vaginal Replacement for Vaginal Atresia Associated with Anorectal Malformation.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2016

Spatiotemporal dynamics of androgen signaling underlie sexual differentiation and congenital malformations of the urethra and vagina.

Proceedings of the National Academy of Sciences of the United States of America
2017

A Case of Distal Vaginal Agenesis Presenting with Recurrent Urinary Tract Infection and Pyuria in a Prepubertal Girl.

Journal of pediatric and adolescent gynecology
2016

Postpartum Vaginal Stenosis Due to Chemical Vaginitis.

Journal of clinical and diagnostic research : JCDR
2016

Indigenous technique of fabricating vaginal mould for vaginal reconstruction and uterine drainage in McIndoe vaginoplasty using 10 ml syringe.

Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India
2016

The clinical application of laparoscope-assisted peritoneal vaginoplasty for the treatment of congenital absence of vagina.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2016

Partial Cervical Agenesis and Complete Vaginal Atresia.

Journal of pediatric and adolescent gynecology
2016

The presentation and management of complex female genital malformations.

Human reproduction update
2015

Robotic approach to vaginal atresia repair in an adolescent girl.

Urology annals
2015

Postoperative Course and Complications after Pull-through Vaginoplasty for Distal Vaginal Atresia.

Journal of pediatric and adolescent gynecology
2015

Imaging Diagnosis of Herlyn-Werner-Wunderlich Syndrome- An Extremely Rare Urogenital Anomaly.

Journal of clinical and diagnostic research : JCDR
2015

Newer surgical approach to prevent re-stenosis following canalisation of cervico-vaginal atresia.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
2015

Bowel vaginoplasty in children and young women: an institutional experience with 55 patients.

International urogynecology journal
2015

A rare reason of the elevated serum Ca 19-9 and Ca 125 levels in neonatal period: Hydrometrocolpos due to distal vaginal atresia.

International journal of surgery case reports
2015

Vaginal anomalies and atresia associated with imperforate anus: diagnosis and surgical management.

Journal of pediatric surgery
2015

[Magnetic resonance imaging as supplement to clinical examination by suspicion of haematocolpos].

Ugeskrift for laeger
2014

Secondary vaginal atresia treated with vaginoplasty using amnion graft: a case report.

Journal of clinical and diagnostic research : JCDR
Ver todos os 159 no EuropePMC

Associações

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Comunidades

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Intrapartum posterior cul-de-sac rupture, a clinical enigma: a case report.
    International journal of surgery case reports· 2026· PMID 41815486mais citado
  2. Difficult Management of a Rare Case of Distal Vaginal Atresia in an Adolescent.
    Cureus· 2026· PMID 41737095mais citado
  3. Versatility of contrast enhanced colosonography for pre-operative evaluation of anorectal malformation with fistula.
    Journal of pediatric surgery· 2026· PMID 40850340mais citado
  4. MRI-based Stratification and Surgical Management of Hydrocolpos in Children and Adolescents.
    European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie· 2026· PMID 40795933mais citado
  5. Laparoscopic Evacuation of Hematometrocolpos in a Didelphys Uterus With Distal Vaginal Atresia.
    Journal of minimally invasive gynecology· 2026· PMID 40268081mais citado
  6. Four-point vaginal reconstruction versus conventional suturing techniques for the treatment of congenital vaginal atresia: a prospective randomized controlled trial.
    Front Pediatr· 2025· PMID 41142002recente
  7. Vaginal considerations in anorectal malformations: Current opinions.
    Semin Pediatr Surg· 2025· PMID 40998624recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:65681(Orphanet)
  2. MONDO:0019007(MONDO)
  3. GARD:18867(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q1691618(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

Atresia da vagina
Compêndio · Raras BR

Atresia da vagina

ORPHA:65681 · MONDO:0019007
Prevalência
Unknown
Herança
Not applicable
CID-10
Q52.0 · Ausência congênita da vagina
CID-11
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1321884
EuropePMC
Wikidata
Papers 10a
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