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Aplasia parcial bilateral do ducto mulleriano
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Introdução

O que você precisa saber de cara

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Esta é uma lista de doenças que começam com a letra "M".

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SUS: Sem cobertura SUSScore: 0%
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Entender a doença

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Sinais e sintomas

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

Partes do corpo afetadas

🦴
Ossos e articulações
10 sintomas
🫘
Rins
9 sintomas
😀
Face
5 sintomas
🧬
Pele e cabelo
4 sintomas
👂
Ouvidos
4 sintomas
🧠
Neurológico
3 sintomas

+ 34 sintomas em outras categorias

Características mais comuns

Hirsutismo facial
Cisto cerebelar
Anomalia de Sprengel
Hematocolpo
Baixa estatura
Aplasia da porção superior da vagina
74sintomas
Sem dados (74)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 74 características clínicas mais associadas, ordenadas por frequência.

Hirsutismo facialFacial hirsutism
Cisto cerebelarCerebellar cyst
Anomalia de SprengelSprengel anomaly
HematocolpoHematocolpos
Baixa estaturaShort stature

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa10
Últimos 10 anos2publicações
Pico20161 papers
Linha do tempo
20202016Hoje · 2026
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição.

HNF1BHepatocyte nuclear factor 1-betaCandidate gene tested inAltamente restrito
FUNÇÃO

Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:17924661, PubMed:7900999). Binds to the FPC element in the cAMP regulatory unit of the PLAU gene (By similarity). Transcriptional activity is increased by coactivator PCBD1 (PubMed:24204001)

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (6)
Nephron developmentRegulation of gene expression in early pancreatic precursor cellsRegulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cellsDevelopmental Lineage of Multipotent Pancreatic Progenitor CellsDevelopmental Lineage of Pancreatic Ductal Cells
MECANISMO DE DOENÇA

Renal cysts and diabetes syndrome

An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract.

EXPRESSÃO TECIDUAL(Tecido-específico)
Rim - Medula
90.4 TPM
Rim - Córtex
53.5 TPM
Linfócitos
43.7 TPM
Pâncreas
23.0 TPM
Cólon transverso
14.9 TPM
OUTRAS DOENÇAS (11)
type 2 diabetes mellitusrenal cysts and diabetes syndromechromosome 17q12 deletion syndromerenal dysplasia, unilateral
HGNC:11630UniProt:P35680
WNT4Protein Wnt-4Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Plays an important role in the embryonic development of the urogenital tract and the lung (PubMed:15317892, PubMed:16959810, PubMed:18179883, PubMed:18182450). Required for normal mesenchyme to epithelium transition during embryonic kidney development. Required for the formation of early epithelial renal vesicles during kidney development (By similarity). Required for normal formation of the Mullerian duct in

LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrix

VIAS BIOLÓGICAS (1)
WNT ligand biogenesis and trafficking
MECANISMO DE DOENÇA

46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs

A disease characterized by the association of female-to-male sex reversal with dysgenesis of kidneys, adrenals, and lungs.

EXPRESSÃO TECIDUAL(Tecido-específico)
Skin Not Sun Exposed Suprapubic
29.3 TPM
Skin Sun Exposed Lower leg
22.8 TPM
Ovário
22.4 TPM
Esôfago - Mucosa
12.8 TPM
Fallopian Tube
10.4 TPM
OUTRAS DOENÇAS (3)
SERKAL syndromemullerian aplasia and hyperandrogenismMayer-Rokitansky-Küster-Hauser syndrome type 2
HGNC:12783UniProt:P56705

Variantes genéticas (ClinVar)

551 variantes patogênicas registradas no ClinVar.

🧬 HNF1B: GRCh38/hg38 17q12(chr17:36466620-37948228)x3 ()
🧬 HNF1B: GRCh38/hg38 17q12(chr17:36466620-38248097)x1 ()
🧬 HNF1B: GRCh38/hg38 17q12(chr17:36121781-38214937)x3 ()
🧬 HNF1B: GRCh38/hg38 17q12(chr17:36466620-38254527)x1 ()
🧬 HNF1B: NM_000458.4(HNF1B):c.600T>G (p.Asp200Glu) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Aplasia parcial bilateral do ducto mulleriano

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

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

A case of neovagina surgical creation using the uterine cervix remnant in a patient with Mayer-Rokitansky-Küster-Hauser syndrome.

Fertility and sterility2021 Nov

To study the efficacy of a novel approach to vaginoplasty in a patient with vaginal aplasia and a preserved cervix. We present the case of a 28-year-old patient who was referred with a history of absent menstruation and vaginal intercourse was absent as well as abnormal development of the internal genitals. The patient underwent a laparoscopic cystectomy in 2012 because of an ovarian cyst and later that year underwent laparotomic supracervical hysterectomy with bilateral salpingectomy because of severe pain caused by a hematometra in their uterine remnant. In the period from 2013 to 2016, multiple pelvic ultrasound examinations revealed a fluid structure in the pelvis. By 2020, the size of the lesion had increased to 10 cm on average. A computed tomography scan and magnetic resonance imaging showed a mucinous lesion in the lower part of the patient's pelvis resembling the cervical origin. No pathology of the urinary tract was found. A laparoscopic approach was chosen to achieve the two main goals of the patient-the possibility of vaginal intercourse and the treatment of the intraabdominal lesion. The procedure started with a vaginal step when the neovagina dissection was performed as in the classical Davydov technique up to the beginning of the dilated cervical remnant. Bilateral ureterolysis was performed laparoscopically to prevent ureteral injury. The peritoneum was widely dissected from both the anterior and posterior surfaces of the uterine cervix, which appeared as a large structure filled with typical cervical mucus. Partial dissection of the sacrouterine and ovarian ligaments on both sides was performed to mobilize the cervix. A transverse incision of the cystically dilated cervix in the cranial part was performed and the edges of the incision were brought down to the introitus of the vagina. The cervicovulvar anastomosis was fixed by separate sutures with Vicryl 2-0. The surgery was performed in an inpatient setting equipped with conventional laparoscopic instruments, a 30-degree laparoscope, a high-definition video system, xenon light source, insufflator, irrigator, and bipolar and monopolar energy sources. A single patient, mentioned previously. Surgical vaginoplasty using the preserved cervix. The details are explained in the Design section. Restoration of the normal vaginal anatomy and function. In the postoperative period, the patient did not have any postoperative complications. The urinary catheter was removed on the first postoperative day. From day 1, the patient was taught to make daily vaginal dilations with a vaginal dilator to maintain normal vaginal depth and width. The patient was discharged on day 3 after surgery. In a 3-month follow-up visit, the patient's vagina appeared normal in size with transverse folds and was very well lubricated because of the natural secretions of the cervical mucosa. The patient had been sexually active by the time of the follow-up visit. According to a literature search, this was the first published case of a successful neovagina creation through cervicovulvar anastomosis. Although different surgical approaches were widely discussed in previous publications of Fertility and Sterility, such as "Laparoscopic uterovaginal anastomosis in Mayer-Rokitansky-Küster-Hauser syndrome with functioning horn", "Laparoscopy-assisted Ruge procedure for the creation of a neovagina in a patient with Mayer-Rokitansky-Küster-Hauser syndrome", and "Evaluation of amnion in creation of neovagina in women with Mayer-Rokitansky-Küster-Hauser syndrome", which were all variants of vaginoplasty with allograft, vaginal distention (Vecchietti procedure), or the use of native tissues (Davydov technique), our approach could be more feasible in the rare cases of preserved distended cervix because of less induced trauma when compared with that of cervical removal. This is because of the strong and lubricated nature of the cervical epithelium, which is already present and does not require time for epithelization.

#2

Sigmoid vaginoplasty in testicular feminising syndrome: surgical technique, outcome and review of the literature.

BMJ case reports2016 Feb 12

Vaginal agenesis occurs in approximately 1:5000 live female births. It results from failure of the sinovaginal bulbs to develop and form the vaginal plate. Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is the most common cause of vaginal absence followed by complete or partial androgen insensitivity syndrome. Treatment of these patients encompasses a spectrum from simple non-operative dilation to the more complicated surgical creation of a neovagina. We present a case of a patient with testicular feminising syndrome who was reared as a female and underwent bilateral gonadal excision and sigmoid vaginoplasty.

Publicações recentes

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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. A case of neovagina surgical creation using the uterine cervix remnant in a patient with Mayer-Rokitansky-Küster-Hauser syndrome.
    Fertility and sterility· 2021· PMID 34330430mais citado
  2. Sigmoid vaginoplasty in testicular feminising syndrome: surgical technique, outcome and review of the literature.
    BMJ case reports· 2016· PMID 26873917mais citado
  3. Rectovesical ligament and fusion defect of the uterus with or without obstructed hemivagina and ipsilateral renal agenesis.
    Eur J Obstet Gynecol Reprod Biol· 2013· PMID 23352619recente
  4. A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.
    BMC Nephrol· 2012· PMID 22583611recente
  5. Three sisters with septate uteri: another reference to bidirectional theory.
    Hum Reprod· 1997· PMID 9043918recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:180068(Orphanet)
  2. MONDO:0015830(MONDO)
  3. GARD:20172(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55785750(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

Aplasia parcial bilateral do ducto mulleriano
Compêndio · Raras BR

Aplasia parcial bilateral do ducto mulleriano

ORPHA:180068 · MONDO:0015830
MedGen
UMLS
C5679589
Wikidata
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