Raras
Buscar doenças, sintomas, genes...
Síndrome de canal de Müller persistente
ORPHA:2856CID-10 · Q55.8CID-11 · LD2A.YOMIM 261550DOENÇA RARA

A Síndrome do Ducto de Müller Persistente (PMDS) é uma condição rara do desenvolvimento sexual (DSD). Ela se caracteriza pela permanência de estruturas que normalmente desapareceriam em meninos – como o útero e/ou as trompas de Falópio – em garotos que, no restante, apresentam um desenvolvimento sexual masculino normal.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A Síndrome do Ducto de Müller Persistente (PMDS) é uma condição rara do desenvolvimento sexual (DSD). Ela se caracteriza pela permanência de estruturas que normalmente desapareceriam em meninos – como o útero e/ou as trompas de Falópio – em garotos que, no restante, apresentam um desenvolvimento sexual masculino normal.

Publicações científicas
419 artigos
Último publicado: 2026 Apr 10

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
Casos conhecidos
300
pacientes catalogados
Início
Infancy
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q55.8
🇧🇷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
1 sintomas
📏
Crescimento
1 sintomas

+ 6 sintomas em outras categorias

Características mais comuns

100%prev.
Criptorquidia bilateral
Frequência: 2/2
100%prev.
Diminuição da circulação do hormônio antimülleriano circulante
Frequência: 2/2
100%prev.
HP:0003577
Frequência: 2/2
90%prev.
Criptorquidia
Muito frequente (99-80%)
55%prev.
Pseudo-hermafroditismo masculino
Frequente (79-30%)
55%prev.
Hérnia inguinal
Frequente (79-30%)
8sintomas
Muito frequente (4)
Frequente (2)
Sem dados (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 8 características clínicas mais associadas, ordenadas por frequência.

Criptorquidia bilateralBilateral cryptorchidism
Frequência: 2/2100%
Diminuição da circulação do hormônio antimülleriano circulanteDecreased circulating antimullerian hormone circulation
Frequência: 2/2100%
HP:0003577
Frequência: 2/2100%
CriptorquidiaCryptorchidism
Muito frequente (99-80%)90%
Pseudo-hermafroditismo masculinoMale pseudohermaphroditism
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico419PubMed
Últimos 10 anos186publicações
Pico201721 papers
Linha do tempo
2026Hoje · 2026📈 2017Ano 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

Genes associados

2 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.

AMHR2Anti-Muellerian hormone type-2 receptorDisease-causing germline mutation(s) inTolerante
FUNÇÃO

On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (1)
Signaling by BMP
MECANISMO DE DOENÇA

Persistent Muellerian duct syndrome 2

A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.

VIAS REACTOME (1)
OUTRAS DOENÇAS (1)
persistent Mullerian duct syndrome
HGNC:465UniProt:Q16671
AMHAnti-Muellerian hormoneDisease-causing germline mutation(s) inTolerante
FUNÇÃO

The anti-Muellerian hormone (AMH) plays an important role in several reproductive functions (PubMed:14742691, PubMed:34155118, PubMed:3754790, PubMed:8469238). Anti-Muellerian hormone binds and activates AMHR2, its specific type-II receptor, that heterodimerizes with type-I receptors (ACVR1 and BMPR1A) to regulate target gene expression through downstream SMAD protein signal transduction (PubMed:20861221, PubMed:34155118). Produced and secreted by Sertoli cells of the male fetus, anti-Muellerian

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (2)
Signaling by BMPTranscriptional regulation of testis differentiation
MECANISMO DE DOENÇA

Persistent Muellerian duct syndrome 1

A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.

OUTRAS DOENÇAS (1)
persistent Mullerian duct syndrome
HGNC:464UniProt:P03971

Variantes genéticas (ClinVar)

126 variantes patogênicas registradas no ClinVar.

🧬 AMH: NM_000479.5(AMH):c.25del (p.Leu9fs) ()
🧬 AMH: NM_000479.5(AMH):c.1507T>C (p.Tyr503His) ()
🧬 AMH: NM_000479.5(AMH):c.698T>G (p.Leu233Arg) ()
🧬 AMH: NM_000479.5(AMH):c.992C>T (p.Ser331Leu) ()
🧬 AMH: NM_000479.5(AMH):c.444C>G (p.Phe148Leu) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 57 variantes classificadas pelo ClinVar.

48
9
Patogênica (84.2%)
VUS (15.8%)
VARIANTES MAIS SIGNIFICATIVAS
AMH: NM_000479.5(AMH):c.992C>T (p.Ser331Leu) [Likely pathogenic]
AMH: NM_000479.5(AMH):c.1430T>C (p.Val477Ala) [Likely pathogenic]
AMHR2: NM_020547.3(AMHR2):c.622-1G>A [Likely pathogenic]
AMHR2: NM_020547.3(AMHR2):c.49+2dup [Likely pathogenic]
AMHR2: NM_020547.3(AMHR2):c.1219C>T (p.Arg407Ter) [Pathogenic]

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

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 — Síndrome de canal de Müller persistente

🗺️

Selecione um estado ou use sua localização para ver resultados.

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
188 papers (10 anos)
#1

Persistent Müllerian duct syndrome - a rare but important cause of male factor infertility.

Nature reviews. Urology2025 Nov 07

Persistent Müllerian duct syndrome (PMDS) is a rare difference of sex development, characterized by the presence of Müllerian duct derivatives in 46,XY individuals with male-typical development. PMDS typically presents during childhood with features of cryptorchidism, inguinal hernia or transverse testicular ectopia. Untreated PMDS is associated with risks of infertility and malignancy. Infertility is common, arising from cryptorchidism, anatomical malformations (such as epididymal aplasia) or extrinsic compression of the ejaculatory duct by Müllerian structures. At the time of diagnosis, just one in five men with PMDS are reported to have conceived naturally. Preservation of fertility potential requires prompt diagnosis and management via a holistic patient-centred approach that addresses the underlying cause. With cryptorchidism, which is a common manifestation of PMDS, early orchidopexy is the key initial intervention. The input of fertility specialists and assisted reproductive techniques can further support successful conception. Beyond its effects on fertility, PMDS carries a risk of malignant transformation in the testes and Müllerian structures, warranting complex management with inclusion of a multi-disciplinary team and consideration of orchidopexy, orchidectomy, excision of Müllerian remnants and onward surveillance. Thus, although rare, PMDS is an important cause of male factor infertility that might be encountered by urologists. Preservation of fertility potential requires a high index of clinical suspicion and timely intervention. Raising awareness of PMDS among clinicians is crucial to improve its detection, advance its clinical management and provide a basis for future research.

#2

Computed Tomographic and Ultrasonographic Features in Three Dogs with Infected Uterus Masculinus and Concurrent Genital Neoplasia.

Animals : an open access journal from MDPI2025 Nov 20

Uterus masculinus is a rare disorder of sexual development in males, characterized by the presence of tubular female genitalia. Diagnostic imaging reports of infected uterus masculinus are limited. We describe the ultrasonographic and computed tomographic findings in three dogs, all presenting with abdominal distension, pain, and systemic infection. Imaging consistently revealed a fluid-filled, bicornuate structure arising from the prostate. In two dogs, the horns extended through the inguinal rings to the scrotal testes; in the third, with a prior left orchiectomy, both horns were intra-abdominal, the right ending in a peritoneal mass. Surgery and histopathology confirmed infected uterus masculinus, with Escherichia coli isolated from urine in all dogs and from the structure in two. Two dogs had Leydig cell tumors, one with concurrent uterine neoplasia; the third had an ovarian or ovotesticular granulosa cell tumor. Although rare, infected uterus masculinus is potentially life-threatening and should be considered in male dogs with abdominal pain, distension, or systemic infection. This is the first case series describing combined ultrasonographic and tomographic features of infected uterus masculinus, including novel findings such as cervix-like mural narrowing and fluid-fluid levels. It is also the first imaging description of an ovarian or ovotesticular tumor in a dog with uterus masculinus.

#3

Transverse testicular ectopia: a case report on preoperative misdiagnosis in two siblings.

AME case reports2025

Transverse testicular ectopia (TTE) is a rare congenital abnormality, with only approximately 35% of TTE cases being correctly diagnosed preoperatively. TTE is generally not considered a genetic or inherited disease, although it may occur in genetically related individuals. Here, we report two siblings who had a preoperative misdiagnosis of TTE and share our experience with their diagnosis and treatment to enhance the clinical literature on the appropriate management of TTE cases. In June 2021, a 1-year-old boy received preoperative diagnoses of right cryptorchidism and left inguinal hernia; however, laparoscopy then corrected the diagnosis and confirmed it as right TTE with persistent Müllerian duct syndrome. Two years later, in August 2023, his younger brother was brought to the hospital and preoperatively diagnosed with right cryptorchidism and left inguinal hernia. Again, the laparoscopic procedure confirmed the diagnosis of right TTE. Both patients underwent transseptal orchidopexy (Ombredanne operation) to fix the testes inside the left and right scrotum. The patients were followed up at the clinic with no issues reported. Ultrasound is the first diagnostic modality for suspected testicular abnormalities, but TTE can have a preoperative misdiagnosis rate up to 35%. Laparoscopy is recommended for the diagnosis of TTE. Children with a preoperative diagnosis of cryptorchidism should be carefully evaluated to rule out TTE, especially in those with an inguinal mass on the opposite side and those with siblings with TTE. Preoperative planning in children diagnosed with cryptorchidism should also consider the possibility of TTE. Once TTE is confirmed, transseptal orchidopexy (Ombredanne operation) can be performed.

#4

An insight into the landscape of a rare tumor-persistent Mullerian duct syndrome with testicular seminoma.

Indian journal of pathology &amp; microbiology2025 Jul 01

Persistent Mullerian duct syndrome (PMDS) is a rare form of internal male pseudohermaphroditism in phenotypically males with 46 XY karyotype. The syndrome is caused by insufficient amount of Mullerian-inhibiting substance (MIS) or due to insensitivity of the target organ to MIS. Till date, less than 300 cases of PMDS are described in English literature, and the association of testicular tumor is still rarer. We report a case of seminoma of testis with PMDS in a 22-year male who reported with intermittent pain, fullness, and dragging sensation over right-side lower abdomen for 4 years. The radiological impression was testicular mass arising from undescended testis with persistent Mullerian duct structures. Histopathology and immunohistochemistry confirmed the diagnosis. Association of undescended testis increases the likelihood of developing testicular tumor in PMDS. Clinicians and pathologists should be aware of the rare entity while dealing with the cryptorchidism with inguinal hernia, and necessary management should be done to reduce the complications.

#5

Fortuitous Persistent Müllerian Duct Syndrome Diagnosis in an Adult Patient With Hematuria: A Case Report.

Clinical case reports2025 Sep

Persistent Müllerian duct syndrome is a genetic disorder. It consists of Müllerian duct remains due to improper anti-Müllerian hormone. Early life presentation is often associated with undescended testes or inguinal hernias. Late diagnosis is rarer and poses a diagnostic challenge. We present a case of robotically treated PMDS in an adult who presented with hematuria.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC308 artigos no totalmostrando 183

2025

Computed Tomographic and Ultrasonographic Features in Three Dogs with Infected Uterus Masculinus and Concurrent Genital Neoplasia.

Animals : an open access journal from MDPI
2025

Transverse testicular ectopia: a case report on preoperative misdiagnosis in two siblings.

AME case reports
2025

Persistent Müllerian duct syndrome - a rare but important cause of male factor infertility.

Nature reviews. Urology
2025

An insight into the landscape of a rare tumor-persistent Mullerian duct syndrome with testicular seminoma.

Indian journal of pathology &amp; microbiology
2024

A MAN WITH UTERINE LEIOMYOMA AS PART OF PERSISTENT MÜLLERIAN DUCT SYNDROME - A CASE REPORT AND REVIEW OF THE LITERATURE.

Acta clinica Croatica
2025

Fortuitous Persistent Müllerian Duct Syndrome Diagnosis in an Adult Patient With Hematuria: A Case Report.

Clinical case reports
2025

[Seminoma of undescended testis in a patient with false hermaphroditism].

Arkhiv patologii
2025

Persistent Müllerian Duct Syndrome and Concurrent Pre-Germ Cell Neoplasia In Situ.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2025

Excision versus division of Müllerian duct remnants in male disorders of sexual development and differentiation: a prospective study to generate anatomical assessment criteria.

Pediatric surgery international
2024

Persistent Mullerian Duct Syndrome in an Adult Infertile Male: A Case Report.

JNMA; journal of the Nepal Medical Association
2025

Radiation therapy in a Yorkshire terrier with seminoma and persistent Müllerian duct syndrome.

The Canadian veterinary journal = La revue veterinaire canadienne
2025

[A Case of Transverse Testicular Ectopia with Complete Descent to the Bottom of the Contralateral Scrotum].

Hinyokika kiyo. Acta urologica Japonica
2025

Transverse testicular ectopia with persistent müllerian duct syndrome: a case report.

Abdominal radiology (New York)
2025

Incidental Discovery of Persistent Müllerian Duct Syndrome in a Male With Bilateral Cryptorchidism and a Testicular Germ Cell Tumor: A Rare Case Report.

Cureus
2025

Case Series of Transverse Testicular Ectopia in Children.

Journal of Indian Association of Pediatric Surgeons
2025

Crossed paths: a systematic review unveiling patterns in crossed testicular ectopia.

World journal of urology
2025

Persistence of Müllerian duct syndrome: a new AMH mutation discovered in a primary infertility case.

Reproductive biomedicine online
2024

Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the AMHR2 Gene and Literature Review.

Diagnostics (Basel, Switzerland)
2025

Significance of ultrasonography in diagnosing transverse testicular ectopia: A case report.

Radiology case reports
2024

An uncommon presentation of persistent Mullerian duct syndrome: A 27-year-old male with Transverse Testicular Ectopia.

International journal of surgery case reports
2024

Transverse testicular ectopia in a newborn with transposition of the great arteries: A unique case report.

International journal of surgery case reports
2024

Persistent Mullerian duct syndrome in a male child: A rare case report on the intersection of surgical importance and economic barriers in Syria.

International journal of surgery case reports
2024

The neglected disease: Persistent Mullerian duct syndrome (PMDS).

Asian journal of surgery
2024

Imaging Aspects in a Case of Persistent Müllerian Duct Syndrome (PMDS): A Case Report and Overview.

Cureus
2024

Testicular tumor in a case of, undescended testes, persistent mullerian duct syndrome and transverse testicular ectopia: Report of a case and review of the literature.

Urology case reports
2024

Persistent Müllerian duct syndrome (PMDS) presenting as bilateral cryptorchidism and left-sided inguinal hernia.

BMJ case reports
2024

Lack of causative mutation in the AMH and AMHR2 genes in a cat (38,XY) with persistent Mullerian duct syndrome (PMDS).

Reproduction in domestic animals = Zuchthygiene
2024

Diagnostic and therapeutic challenges with germ cell tumours associated with transverse testicular ectopia and persistent Müllerian duct syndrome.

BMJ case reports
2024

A rare case report of orchiopexy and hysterectomy in an Afghan boy with persistent Müllerian duct syndrome.

International journal of surgery case reports
2024

Disorders of Sex Development: Experience at a Tertiary Care Hospital in Bangladesh.

Mymensingh medical journal : MMJ
2024

'Testicular masquerade': a case report of testicular malignancy with persistent Müllerian duct syndrome and transverse testicular ectopia.

Annals of the Royal College of Surgeons of England
2023

Persistent Müllerian Duct Syndrome Diagnosed Incidentally: A Case Report.

JPMA. The Journal of the Pakistan Medical Association
2024

A novel AMH variant at the prehelix loop impairs the binding to AMHR2 and causes persistent Müllerian duct syndrome.

Asian journal of andrology
2023

Transverse testicular ectopia: two case reports and literature review.

International journal of surgery case reports
2023

Research progress on the pathogenesis of pediatric transverse testicular ectopia with persistent Mullerian duct syndrome.

Asian journal of surgery
2023

A novel mutation in the AMHR2 gene, resulting in persistent Müllerian duct syndrome presenting with bilateral cryptorchidism and obstructed inguinal hernia.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2023

Case report: Persistent Müllerian duct syndrome and enlarged prostatic utricle in a male dog.

Frontiers in veterinary science
2023

Surgical resection therapy of a rare presentation of persistent Mullerian duct syndrome: a case review.

Therapeutic advances in rare disease
2023

The Risk of Malignant Degeneration of Müllerian Derivatives in PMDS: A Review of the Literature.

Journal of clinical medicine
2023

Persistent Müllerian duct syndrome: a rare clinical image.

The Pan African medical journal
2023

Testicular malignancy in persistent Mullerian duct syndrome: Experience from an apex cancer center with review of literature.

Urologic oncology
2023

Persistent Mullerian duct syndrome with polycystic ovary in a young adult: A rare case report.

Radiology case reports
2023

Persistent mullerian duct syndrome in a dog.

Schweizer Archiv fur Tierheilkunde
2023

High-Grade Prostate Cancer Invading the Vagina: A Case Report of an Unusual Prostate Cancer Diagnosed in a Man with Persistent Mullerian Duct Syndrome.

Case reports in oncology
2023

A rare presentation of transverse testicular ectopia and role of laparoscopy.

African journal of paediatric surgery : AJPS
2023

Persistent Müllerian duct syndrome: A surgical surprise and management during laparoscopic transabdominal pre-peritoneal repair.

Journal of minimal access surgery
2023

Persistent Müllerian duct syndrome in an assisted reproductive patient: a novel variant impairs the biosynthesis and secretion of anti-Müllerian hormone (AMH).

Asian journal of andrology
2023

A Surgical and Clinical Approach to Persistent Müllerian Duct Syndrome: Laparoscopic, Histological, and Molecular Findings.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2022

A rare form of male pseudohermaphroditism-Persistent Mullerian Duct Syndrome.

Journal of surgical case reports
2022

Prostatic adenocarcinoma in a patient with persistent Müllerian duct syndrome.

Urology annals
2022

Germ Cell Tumors Revealing a Familial Persistent Müllerian Duct Syndrome.

The Gulf journal of oncology
2022

Transverse testicular ectopia with persistent Mullerian duct syndrome: Report and review of two cases.

Andrologia
2022

Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.

Human reproduction (Oxford, England)
2022

Diagnostic value of ultrasound in children with transverse testicular ectopia.

Frontiers in pediatrics
2022

Lessons learned from five patients of persistent Mullerian duct syndrome: A case series.

International journal of surgery case reports
2022

Transverse testicular ectopia with persistent mullerian duct syndrome: Misdiagnosis and surgeon's unexpected discovery: A case report.

Urology case reports
2022

Molecular Mechanisms of AMH Signaling.

Frontiers in endocrinology
2022

46,XY disorders of sex development: the use of NGS for prevalent variants.

Human genetics
2022

Two novel AMHR2 gene variants in monozygotic twins with persistent Müllerian duct syndrome: A case report and functional study.

Molecular genetics &amp; genomic medicine
2023

A Phenotypical Male With a Uterus.

Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC
2022

Persistent Mullerian duct syndrome (PMDS): Case report and review of literature.

Urology case reports
2022

Persistent Müllerian Duct Syndrome: Understanding the Challenges.

Case reports in urology
2022

Genetics of anti-Müllerian hormone and its signaling pathway.

Best practice &amp; research. Clinical endocrinology &amp; metabolism
2021

Persistent Mullerian Duct Syndrome.

Journal of Ayub Medical College, Abbottabad : JAMC
2022

Identification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases.

Genes
2021

A 35-year-old father with persistent Mullerian duct syndrome and seminoma of the right undescended testis: a rare case report.

Surgical case reports
2021

[Laparoscopic management of persistent Müllerian duct syndrome: A case report and pedigree investigation].

Zhonghua nan ke xue = National journal of andrology
2021

Persistent Mullerian Duct Syndrome: A Rare Case of an Adult Infertile Male with Bilateral Cryptorchidism.

Journal of reproduction &amp; infertility
2022

Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients.

Asian journal of andrology
2023

Up-to-Date Clinical and Biochemical Workup of the Child and the Adolescent with a Suspected Disorder of Sex Development.

Hormone research in paediatrics
2022

Type 2 transverse testicular ectopia: A case report.

Urology case reports
2021

Clinical Applications of Serum Anti-Müllerian Hormone Measurements in Both Males and Females: An Update.

Innovation (Cambridge (Mass.))
2022

Clinical Utility of Anti-Mullerian Hormone in Pediatrics.

The Journal of clinical endocrinology and metabolism
2022

AMH and AMHR2 Involvement in Congenital Disorders of Sex Development.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2021

A rare form of persistent Mullerian duct syndrome: Transverse testicular ectopia with germ cell testis cancer and hernia uteri inguinalis.

Andrologia
2021

A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome.

Molecular genetics &amp; genomic medicine
2021

Management of Groin Pain Using an Iliohypogastric Nerve Block in a Patient with Inguinal Hernia due to Persistent Müllerian Duct Syndrome.

Case reports in urology
2021

Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD Registry.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2021

A rare case report - Ovary attached to testicle inside hernia sac.

Urology case reports
2021

Identification of two AMH gene variants in two unrelated patients with persistent Müllerian duct syndrome: one novel variant.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
2020

Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2021

Transverse testicular ectopia associated with persistent Mullerian duct syndrome in infertile male: two case reports and literature review.

Translational andrology and urology
2020

Hypofertility in a persistence of mullerian duct syndrome: Case report.

International journal of surgery case reports
2020

Genetic and histopathological analysis of transverse testicular ectopia without persistent Müllerian duct syndrome: two case reports.

Journal of medical case reports
2020

Female form of persistent Müllerian duct syndrome: A rare case report and review of literature.

International journal of surgery case reports
2020

Persistant Mullerian duct syndrome with intra-abdominal seminoma.

Urology case reports
2021

A case of persistent Mullerian duct syndrome in a dog.

The Journal of small animal practice
2021

Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families.

Journal of endocrinological investigation
2020

What Does AMH Tell Us in Pediatric Disorders of Sex Development?

Frontiers in endocrinology
2020

Crossed testicular ectopia: Case report with review of literature.

International journal of surgery case reports
2019

Persistent Müllerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and Cryptorchidism.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2020

Robot-Assisted Laparoscopic Management of Persistent Mullerian Duct Structures in a Male Infant: A Novel Technique.

Journal of endourology case reports
2020

Persistent Mullerian duct syndrome: rare presentation in an elderly man.

BMJ case reports
2020

A Case of Adenocarcinoma of Uterus Masculinus in a Pomeranian Dog.

Frontiers in veterinary science
2020

Transverse testicular ectopia with persistent Mullerian duct syndrome: an operative eureka.

International journal of surgery case reports
2020

A Simplified Management of Transverse Testicular Ectopia in Patients with Persistent Mullerian Duct Syndrome.

Urology journal
2020

Mutational Analysis of the Putative Anti-Müllerian Hormone (AMH) Binding Interface on its Type II Receptor, AMHR2.

Endocrinology
2020

Cystoscopy and mucosectomy: Essentials in the management of persistent müllerian duct syndrome with transverse testicular ectopia.

Archivos espanoles de urologia
2020

Detection and Treatment of Persistent Mullerian Duct Syndrome With Transverse Testicular Ectopia.

Urology
2020

Persistent Müllerian duct syndrome due to anti-Müllerian hormone receptor 2 microdeletions: a diagnostic challenge.

Human reproduction (Oxford, England)
2019

Persistent Müllerian duct syndrome: an update.

Reproduction, fertility, and development
2020

A rare case report of bilateral recurrent inguinal hernia due to persistent Müllerian duct syndrome treated by transabdominal preperitoneal repair.

Medicine
2020

Robot-assisted hysterectomy in a 41-year-old male: A rare case report.

Urology case reports
2019

Transvers testicular ectopia: A case report and literature review.

International journal of surgery case reports
2019

Persistent Mullerian Duct Syndrome: A rare clinical entity.

Medical journal, Armed Forces India
2019

Persistent Mullerian Duct Syndrome with Polysplenia and Short Pancreas: A Case Report.

JNMA; journal of the Nepal Medical Association
2019

Cancer on cryptorchid testis revealing a Persistent Müllerian Duct Syndrome: A rare case.

Urology case reports
2019

AMH and AMHR2 mutations: A spectrum of reproductive phenotypes across vertebrate species.

Developmental biology
2019

Persistent Mullerian duct Syndrome in a Brazilian miniature schnauzer dog.

Anais da Academia Brasileira de Ciencias
2019

A mutation inactivating the distal SF1 binding site on the human anti-Müllerian hormone promoter causes persistent Müllerian duct syndrome.

Human molecular genetics
2019

Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype.

International braz j urol : official journal of the Brazilian Society of Urology
2019

Persistent Mullerian duct syndrome with transverse testicular ectopia: A case report.

Urology case reports
2019

A unique case of aggressive uterine cancer in a 45-year-old man with persistent Müllerian duct syndrome.

Archivos espanoles de urologia
2019

Hysterectomy in a Male! Rare Stigma of a Case of Persistent Mullerian Duct Syndrome.

Journal of obstetrics and gynaecology of India
2019

A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2019

Ambiguous genitalia: An overview of 7 years experience at the Children's Hospital & Institute of Child Health, Lahore, Pakistan.

Pakistan journal of medical sciences
2018

Management of Transverse Testicular Ectopia with Persistent Mullerian Duct Syndrome.

Northern clinics of Istanbul
2019

An unusual case of undescended testis: type II persistent Müllerian duct syndrome.

Pathology
2019

Persistent mullerian duct syndrome with mixed germ cell tumor of undescended testis: A case report.

Indian journal of pathology &amp; microbiology
2019

Pure Seminoma and Concurrent Aggressive Lymphoma: Case Report of a Patient With Persistent Müllerian Duct Syndrome.

Clinical genitourinary cancer
2018

Persistent Mullerian Duct Syndrome with Testicular Seminoma in Transverse Testicular Ectopia.

Journal of human reproductive sciences
2018

Transverse testicular ectopia associated with persistent Müllerian duct syndrome treated by transseptal orchiopexy: A case report.

Medicine
2018

Persistent Mullerian Duct Syndrome: A Single-Center Experience.

Journal of Indian Association of Pediatric Surgeons
2018

Persistent Mullerian duct syndrome: Report of two cases with phenotypical immunohistochemical profiling.

Urologia
2019

Regulation of anti-Müllerian hormone (AMH) in males and the associations of serum AMH with the disorders of male fertility.

Asian journal of andrology
2018

Sertoli Cell Tumour and Uterine Leiomyoma in Miniature Schnauzer Dogs with Persistent Müllerian Duct Syndrome Caused by Mutation in the AMHR2 Gene.

Journal of comparative pathology
2018

[A rare cause of cryptorchidism, the persistence of müllerian ducts syndrome].

Revue medicale de Liege
2018

Persistent Müllerian Duct Syndrome in a German Shepherd Dog.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2018

Robotic removal of Müllerian duct remnants in pediatric patients: our experience and a review of the literature.

La Pediatria medica e chirurgica : Medical and surgical pediatrics
2018

Case Report: Laparoscopic Approach for Orchiopexy in a 26-Year-Old Man with Accidentally Discovered Persistent Müllerian Duct Syndrome and Bilateral Undescended Testis.

Journal of endourology case reports
2018

A Novel Mutation of AMHR2 in Two Siblings with Persistent Müllerian Duct Syndrome.

Journal of clinical research in pediatric endocrinology
2018

Transverse testicular ectopia with persistent mullerian duct syndrome.

BMJ case reports
2017

Rare case of transverse testicular ectopia - Case report and review of literature.

International journal of surgery case reports
2018

Management of the patients with persistent Müllerian duct syndrome: Is the ultimate goal testicular descent?

Turkish journal of urology
2018

Incidentally Discovered Persistent Müllerian Duct Syndrome in a 45-year-old male presenting with germ cell tumor and bilateral cryptorchidism: A rare case report and review of the literature.

International journal of surgery case reports
2017

Persistent Müllerian duct syndrome: A case report and review.

Experimental and therapeutic medicine
2018

Prevalence of the AMHR2 mutation in Miniature Schnauzers and genetic investigation of a Belgian Malinois with persistent Müllerian duct syndrome.

Reproduction in domestic animals = Zuchthygiene
2018

Prostatic adenocarcinoma in the setting of persistent müllerian duct syndrome: a case report.

Human pathology
2017

Re: Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management.

International braz j urol : official journal of the Brazilian Society of Urology
2017

MRI findings of Persistent Mullerian Duct Syndrome: A Rare Case Report.

Journal of clinical and diagnostic research : JCDR
2017

Persistent Müllerian duct syndrome: A novel mutation in the Αnti-Müllerian Ηormone gene.

Hormones (Athens, Greece)
2017

A rare case of male pseudohermaphroditism-persistent mullerian duct syndrome with transverse testicular ectopia - Case report and review of literature.

International journal of surgery case reports
2017

The possible role of AMH in shortening the gubernacular cord in testicular descent: A reappraisal of the evidence.

Journal of pediatric surgery
2017

Radiological Findings in Persistent Müllerian Duct Syndrome: Case Report and Review of Literature.

Journal of radiology case reports
2017

Coincidence of Persistent Müllerian duct syndrome and testicular tumors in dogs.

BMC veterinary research
2017

The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2017

Persistent Mullerian Duct Syndrome Presenting in an Incarcerated Recurrent Inguinal Hernia with Hydrocele.

Urology case reports
2016

Bilateral Cryptorchidism, a rare presentation for persistent Müllerian duct syndrome.

Electronic physician
2017

Transverse testicular ectopia with scrotal hypospadias but without inguinal hernia - Case report of a rare association.

International journal of surgery case reports
2017

Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2017

Persistent Müllerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Müllerian Hormone Receptor Mutation.

Journal of clinical research in pediatric endocrinology
2017

[Persistent mullerian duct syndrome : Rare incidental finding during treatment of pediatric inguinal hernia].

Der Urologe. Ausg. A
2016

Laparoscopically assisted treatment of transverse testicular ectopia with persistent Müllerian duct syndrome: a case report and review of the literature.

Hippokratia
2016

Transverse testicular ectopia with a blind ending vas deferens.

Indian journal of urology : IJU : journal of the Urological Society of India
2017

Presence of Germ Cells in Disorders of Sex Development: Implications for Fertility Potential and Preservation.

The Journal of urology
2016

Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management.

International braz j urol : official journal of the Brazilian Society of Urology
2016

Malignancy in disorders of sex development.

Translational andrology and urology
2017

A Case of Chromosomal Disorders of Sex Development with Transverse Testicular Ectopia Mimicking Mixed Gonadal Dysgenesis.

Urology
2016

[Intra-Abdominal Germ Cell Tumor in Persistent Mullerian Duct Syndrome].

Hinyokika kiyo. Acta urologica Japonica
2017

Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers.

Journal of veterinary science
2016

A Rare Case Report of Inguinal Hernia with Persistent Mullerian Duct and Klinefelter Syndrome.

Journal of clinical and diagnostic research : JCDR
2016

Persistent Müllerian Duct Syndrome Caused by a Novel Mutation of an Anti-MüIlerian Hormone Receptor Gene: Case Presentation and Literature Review.

Pediatric endocrinology reviews : PER
2017

[Persistent Müllerian duct syndrome due to a mutation in the anti-Müllerian hormone receptor gene (AMHR2)].

Anales de pediatria (Barcelona, Spain : 2003)
2016

Operative considerations for late-presenting persistent Müllerian duct syndrome.

Urology annals
2016

Persistent mullerian duct syndrome: A 24-year experience.

Journal of pediatric surgery
2016

Persistent mullerian duct syndrome presenting as retractile testis with hypospadias: A rare entity.

World journal of clinical cases
2016

Persistent Müllerian duct syndrome of mixed anatomical variant (combined male and female type) with mixed germ cell tumor of left intra-abdominal testis.

Indian journal of pathology &amp; microbiology
2016

Persistent Mullerian Duct Syndrome with Ovarian Endometriosis-A Rare Case Report.

Journal of clinical and diagnostic research : JCDR
2016

Persistent Mullerian Duct Syndrome with Embryonal Cell Carcinoma along with Ectopic Cross Fused Kidney.

Journal of clinical and diagnostic research : JCDR
2015

Persistent Müllerian duct structures presenting as hematuria in an adult: Case report of robotic surgical removal and review of the literature.

Urology annals
2015

Laparoscopic hysterectomy with bilateral orchidectomy for Persistent Mullerian duct syndrome with seminoma testes: Case report.

Journal of minimal access surgery
2016

Preservation of müllerian structures with laparoscopic management of intra-abdominal testes in persistent müllerian duct syndrome.

Journal of pediatric urology
2015

Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population.

Hong Kong medical journal = Xianggang yi xue za zhi
2015

Persistent Müllerian Duct Syndrome (PMDS): a Rare Anomaly the General Surgeon Must Know About.

The Indian journal of surgery
2015

Laparoscopic management of transverse testicular ectopia with persistent mullerian duct syndrome.

Journal of minimal access surgery
2015

A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2014

The management of the persistent Müllerian duct syndrome.

Arab journal of urology
2015

Persistence of müllerian duct structures in a genetic male with distal monosomy 10q.

American journal of medical genetics. Part A
2015

[Persistent Müllerian ducts syndrome: one case of late hypofertility].

Morphologie : bulletin de l'Association des anatomistes
2015

Acute urinary retention caused by seminoma in a case of persistent Mullerian duct syndrome.

Indian journal of pathology &amp; microbiology
2015

Female form of persistent mullerian duct syndrome: Rare entity.

Urology annals
2014

Uterine leiomyoma in a man with persistent Müllerian duct syndrome and seminoma.

The Israel Medical Association journal : IMAJ
2015

Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia.

Journal of surgical technique and case report
Ver todos os 308 no EuropePMC

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. Persistent M&#xfc;llerian duct syndrome - a rare but important cause of male factor infertility.
    Nature reviews. Urology· 2025· PMID 41203848mais citado
  2. Computed Tomographic and Ultrasonographic Features in Three Dogs with Infected Uterus Masculinus and Concurrent Genital Neoplasia.
    Animals : an open access journal from MDPI· 2025· PMID 41302065mais citado
  3. Transverse testicular ectopia: a case report on preoperative misdiagnosis in two siblings.
    AME case reports· 2025· PMID 41210471mais citado
  4. An insight into the landscape of a rare tumor-persistent Mullerian duct syndrome with testicular seminoma.
    Indian journal of pathology &amp; microbiology· 2025· PMID 41171955mais citado
  5. Fortuitous Persistent M&#xfc;llerian Duct Syndrome Diagnosis in an Adult Patient With Hematuria: A Case Report.
    Clinical case reports· 2025· PMID 40909867mais citado
  6. Persistent Müllerian Duct Syndrome on 18F-FDG PET/CT.
    Clin Nucl Med· 2026· PMID 41960975recente
  7. Blood in semen as a clue: a case of persistent Müllerian Duct Syndrome.
    Rev Fac Cien Med Univ Nac Cordoba· 2026· PMID 41911204recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2856(Orphanet)
  2. OMIM OMIM:261550(OMIM)
  3. MONDO:0009857(MONDO)
  4. GARD:8435(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q1958739(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

Síndrome de canal de Müller persistente
Compêndio · Raras BR

Síndrome de canal de Müller persistente

ORPHA:2856 · MONDO:0009857
Prevalência
Unknown
Casos
300 casos conhecidos
Herança
Autosomal recessive
CID-10
Q55.8 · Outras malformações congênitas especificadas dos órgãos genitais masculinos
CID-11
Início
Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1849930
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

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