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.
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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 6 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 8 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
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
Membrane
Persistent Muellerian duct syndrome 2
A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.
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
Secreted
Persistent Muellerian duct syndrome 1
A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.
Variantes genéticas (ClinVar)
126 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 57 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de canal de Müller persistente
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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
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Persistent Müllerian duct syndrome - a rare but important cause of male factor infertility.
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.
Computed Tomographic and Ultrasonographic Features in Three Dogs with Infected Uterus Masculinus and Concurrent Genital Neoplasia.
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.
Transverse testicular ectopia: a case report on preoperative misdiagnosis in two siblings.
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.
An insight into the landscape of a rare tumor-persistent Mullerian duct syndrome with testicular seminoma.
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.
Fortuitous Persistent Müllerian Duct Syndrome Diagnosis in an Adult Patient With Hematuria: A Case Report.
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
Persistent Müllerian Duct Syndrome on 18F-FDG PET/CT.
Blood in semen as a clue: a case of persistent Müllerian Duct Syndrome.
Computed Tomographic and Ultrasonographic Features in Three Dogs with Infected Uterus Masculinus and Concurrent Genital Neoplasia.
Transverse testicular ectopia: a case report on preoperative misdiagnosis in two siblings.
Persistent Müllerian duct syndrome - a rare but important cause of male factor infertility.
📚 EuropePMC308 artigos no totalmostrando 183
Computed Tomographic and Ultrasonographic Features in Three Dogs with Infected Uterus Masculinus and Concurrent Genital Neoplasia.
Animals : an open access journal from MDPITransverse testicular ectopia: a case report on preoperative misdiagnosis in two siblings.
AME case reportsPersistent Müllerian duct syndrome - a rare but important cause of male factor infertility.
Nature reviews. UrologyAn insight into the landscape of a rare tumor-persistent Mullerian duct syndrome with testicular seminoma.
Indian journal of pathology & microbiologyA MAN WITH UTERINE LEIOMYOMA AS PART OF PERSISTENT MÜLLERIAN DUCT SYNDROME - A CASE REPORT AND REVIEW OF THE LITERATURE.
Acta clinica CroaticaFortuitous Persistent Müllerian Duct Syndrome Diagnosis in an Adult Patient With Hematuria: A Case Report.
Clinical case reports[Seminoma of undescended testis in a patient with false hermaphroditism].
Arkhiv patologiiPersistent 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 SocietyExcision versus division of Müllerian duct remnants in male disorders of sexual development and differentiation: a prospective study to generate anatomical assessment criteria.
Pediatric surgery internationalPersistent Mullerian Duct Syndrome in an Adult Infertile Male: A Case Report.
JNMA; journal of the Nepal Medical AssociationRadiation therapy in a Yorkshire terrier with seminoma and persistent Müllerian duct syndrome.
The Canadian veterinary journal = La revue veterinaire canadienne[A Case of Transverse Testicular Ectopia with Complete Descent to the Bottom of the Contralateral Scrotum].
Hinyokika kiyo. Acta urologica JaponicaTransverse testicular ectopia with persistent müllerian duct syndrome: a case report.
Abdominal radiology (New York)Incidental Discovery of Persistent Müllerian Duct Syndrome in a Male With Bilateral Cryptorchidism and a Testicular Germ Cell Tumor: A Rare Case Report.
CureusCase Series of Transverse Testicular Ectopia in Children.
Journal of Indian Association of Pediatric SurgeonsCrossed paths: a systematic review unveiling patterns in crossed testicular ectopia.
World journal of urologyPersistence of Müllerian duct syndrome: a new AMH mutation discovered in a primary infertility case.
Reproductive biomedicine onlinePersistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the AMHR2 Gene and Literature Review.
Diagnostics (Basel, Switzerland)Significance of ultrasonography in diagnosing transverse testicular ectopia: A case report.
Radiology case reportsAn uncommon presentation of persistent Mullerian duct syndrome: A 27-year-old male with Transverse Testicular Ectopia.
International journal of surgery case reportsTransverse testicular ectopia in a newborn with transposition of the great arteries: A unique case report.
International journal of surgery case reportsPersistent 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 reportsThe neglected disease: Persistent Mullerian duct syndrome (PMDS).
Asian journal of surgeryImaging Aspects in a Case of Persistent Müllerian Duct Syndrome (PMDS): A Case Report and Overview.
CureusTesticular 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 reportsPersistent Müllerian duct syndrome (PMDS) presenting as bilateral cryptorchidism and left-sided inguinal hernia.
BMJ case reportsLack of causative mutation in the AMH and AMHR2 genes in a cat (38,XY) with persistent Mullerian duct syndrome (PMDS).
Reproduction in domestic animals = ZuchthygieneDiagnostic and therapeutic challenges with germ cell tumours associated with transverse testicular ectopia and persistent Müllerian duct syndrome.
BMJ case reportsA rare case report of orchiopexy and hysterectomy in an Afghan boy with persistent Müllerian duct syndrome.
International journal of surgery case reportsDisorders of Sex Development: Experience at a Tertiary Care Hospital in Bangladesh.
Mymensingh medical journal : MMJ'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 EnglandPersistent Müllerian Duct Syndrome Diagnosed Incidentally: A Case Report.
JPMA. The Journal of the Pakistan Medical AssociationA novel AMH variant at the prehelix loop impairs the binding to AMHR2 and causes persistent Müllerian duct syndrome.
Asian journal of andrologyTransverse testicular ectopia: two case reports and literature review.
International journal of surgery case reportsResearch progress on the pathogenesis of pediatric transverse testicular ectopia with persistent Mullerian duct syndrome.
Asian journal of surgeryA novel mutation in the AMHR2 gene, resulting in persistent Müllerian duct syndrome presenting with bilateral cryptorchidism and obstructed inguinal hernia.
Journal of pediatric endocrinology & metabolism : JPEMCase report: Persistent Müllerian duct syndrome and enlarged prostatic utricle in a male dog.
Frontiers in veterinary scienceSurgical resection therapy of a rare presentation of persistent Mullerian duct syndrome: a case review.
Therapeutic advances in rare diseaseThe Risk of Malignant Degeneration of Müllerian Derivatives in PMDS: A Review of the Literature.
Journal of clinical medicinePersistent Müllerian duct syndrome: a rare clinical image.
The Pan African medical journalTesticular malignancy in persistent Mullerian duct syndrome: Experience from an apex cancer center with review of literature.
Urologic oncologyPersistent Mullerian duct syndrome with polycystic ovary in a young adult: A rare case report.
Radiology case reportsPersistent mullerian duct syndrome in a dog.
Schweizer Archiv fur TierheilkundeHigh-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 oncologyA rare presentation of transverse testicular ectopia and role of laparoscopy.
African journal of paediatric surgery : AJPSPersistent Müllerian duct syndrome: A surgical surprise and management during laparoscopic transabdominal pre-peritoneal repair.
Journal of minimal access surgeryPersistent Müllerian duct syndrome in an assisted reproductive patient: a novel variant impairs the biosynthesis and secretion of anti-Müllerian hormone (AMH).
Asian journal of andrologyA 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 differentiationA rare form of male pseudohermaphroditism-Persistent Mullerian Duct Syndrome.
Journal of surgical case reportsProstatic adenocarcinoma in a patient with persistent Müllerian duct syndrome.
Urology annalsGerm Cell Tumors Revealing a Familial Persistent Müllerian Duct Syndrome.
The Gulf journal of oncologyTransverse testicular ectopia with persistent Mullerian duct syndrome: Report and review of two cases.
AndrologiaPersistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.
Human reproduction (Oxford, England)Diagnostic value of ultrasound in children with transverse testicular ectopia.
Frontiers in pediatricsLessons learned from five patients of persistent Mullerian duct syndrome: A case series.
International journal of surgery case reportsTransverse testicular ectopia with persistent mullerian duct syndrome: Misdiagnosis and surgeon's unexpected discovery: A case report.
Urology case reportsMolecular Mechanisms of AMH Signaling.
Frontiers in endocrinology46,XY disorders of sex development: the use of NGS for prevalent variants.
Human geneticsTwo novel AMHR2 gene variants in monozygotic twins with persistent Müllerian duct syndrome: A case report and functional study.
Molecular genetics & genomic medicineA Phenotypical Male With a Uterus.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGCPersistent Mullerian duct syndrome (PMDS): Case report and review of literature.
Urology case reportsPersistent Müllerian Duct Syndrome: Understanding the Challenges.
Case reports in urologyGenetics of anti-Müllerian hormone and its signaling pathway.
Best practice & research. Clinical endocrinology & metabolismPersistent Mullerian Duct Syndrome.
Journal of Ayub Medical College, Abbottabad : JAMCIdentification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases.
GenesA 35-year-old father with persistent Mullerian duct syndrome and seminoma of the right undescended testis: a rare case report.
Surgical case reports[Laparoscopic management of persistent Müllerian duct syndrome: A case report and pedigree investigation].
Zhonghua nan ke xue = National journal of andrologyPersistent Mullerian Duct Syndrome: A Rare Case of an Adult Infertile Male with Bilateral Cryptorchidism.
Journal of reproduction & infertilitySurgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients.
Asian journal of andrologyUp-to-Date Clinical and Biochemical Workup of the Child and the Adolescent with a Suspected Disorder of Sex Development.
Hormone research in paediatricsType 2 transverse testicular ectopia: A case report.
Urology case reportsClinical Applications of Serum Anti-Müllerian Hormone Measurements in Both Males and Females: An Update.
Innovation (Cambridge (Mass.))Clinical Utility of Anti-Mullerian Hormone in Pediatrics.
The Journal of clinical endocrinology and metabolismAMH and AMHR2 Involvement in Congenital Disorders of Sex Development.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationA rare form of persistent Mullerian duct syndrome: Transverse testicular ectopia with germ cell testis cancer and hernia uteri inguinalis.
AndrologiaA novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome.
Molecular genetics & genomic medicineManagement of Groin Pain Using an Iliohypogastric Nerve Block in a Patient with Inguinal Hernia due to Persistent Müllerian Duct Syndrome.
Case reports in urologyTestosterone 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 differentiationA rare case report - Ovary attached to testicle inside hernia sac.
Urology case reportsIdentification 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 EndocrinologyAtypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationTransverse testicular ectopia associated with persistent Mullerian duct syndrome in infertile male: two case reports and literature review.
Translational andrology and urologyHypofertility in a persistence of mullerian duct syndrome: Case report.
International journal of surgery case reportsGenetic and histopathological analysis of transverse testicular ectopia without persistent Müllerian duct syndrome: two case reports.
Journal of medical case reportsFemale form of persistent Müllerian duct syndrome: A rare case report and review of literature.
International journal of surgery case reportsPersistant Mullerian duct syndrome with intra-abdominal seminoma.
Urology case reportsA case of persistent Mullerian duct syndrome in a dog.
The Journal of small animal practiceIdentification of four novel variant in the AMHR2 gene in six unrelated Turkish families.
Journal of endocrinological investigationWhat Does AMH Tell Us in Pediatric Disorders of Sex Development?
Frontiers in endocrinologyCrossed testicular ectopia: Case report with review of literature.
International journal of surgery case reportsPersistent 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 differentiationRobot-Assisted Laparoscopic Management of Persistent Mullerian Duct Structures in a Male Infant: A Novel Technique.
Journal of endourology case reportsPersistent Mullerian duct syndrome: rare presentation in an elderly man.
BMJ case reportsA Case of Adenocarcinoma of Uterus Masculinus in a Pomeranian Dog.
Frontiers in veterinary scienceTransverse testicular ectopia with persistent Mullerian duct syndrome: an operative eureka.
International journal of surgery case reportsA Simplified Management of Transverse Testicular Ectopia in Patients with Persistent Mullerian Duct Syndrome.
Urology journalMutational Analysis of the Putative Anti-Müllerian Hormone (AMH) Binding Interface on its Type II Receptor, AMHR2.
EndocrinologyCystoscopy and mucosectomy: Essentials in the management of persistent müllerian duct syndrome with transverse testicular ectopia.
Archivos espanoles de urologiaDetection and Treatment of Persistent Mullerian Duct Syndrome With Transverse Testicular Ectopia.
UrologyPersistent Müllerian duct syndrome due to anti-Müllerian hormone receptor 2 microdeletions: a diagnostic challenge.
Human reproduction (Oxford, England)Persistent Müllerian duct syndrome: an update.
Reproduction, fertility, and developmentA rare case report of bilateral recurrent inguinal hernia due to persistent Müllerian duct syndrome treated by transabdominal preperitoneal repair.
MedicineRobot-assisted hysterectomy in a 41-year-old male: A rare case report.
Urology case reportsTransvers testicular ectopia: A case report and literature review.
International journal of surgery case reportsPersistent Mullerian Duct Syndrome: A rare clinical entity.
Medical journal, Armed Forces IndiaPersistent Mullerian Duct Syndrome with Polysplenia and Short Pancreas: A Case Report.
JNMA; journal of the Nepal Medical AssociationCancer on cryptorchid testis revealing a Persistent Müllerian Duct Syndrome: A rare case.
Urology case reportsAMH and AMHR2 mutations: A spectrum of reproductive phenotypes across vertebrate species.
Developmental biologyPersistent Mullerian duct Syndrome in a Brazilian miniature schnauzer dog.
Anais da Academia Brasileira de CienciasA mutation inactivating the distal SF1 binding site on the human anti-Müllerian hormone promoter causes persistent Müllerian duct syndrome.
Human molecular geneticsNovel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype.
International braz j urol : official journal of the Brazilian Society of UrologyPersistent Mullerian duct syndrome with transverse testicular ectopia: A case report.
Urology case reportsA unique case of aggressive uterine cancer in a 45-year-old man with persistent Müllerian duct syndrome.
Archivos espanoles de urologiaHysterectomy in a Male! Rare Stigma of a Case of Persistent Mullerian Duct Syndrome.
Journal of obstetrics and gynaecology of IndiaA 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 differentiationAmbiguous genitalia: An overview of 7 years experience at the Children's Hospital & Institute of Child Health, Lahore, Pakistan.
Pakistan journal of medical sciencesManagement of Transverse Testicular Ectopia with Persistent Mullerian Duct Syndrome.
Northern clinics of IstanbulAn unusual case of undescended testis: type II persistent Müllerian duct syndrome.
PathologyPersistent mullerian duct syndrome with mixed germ cell tumor of undescended testis: A case report.
Indian journal of pathology & microbiologyPure Seminoma and Concurrent Aggressive Lymphoma: Case Report of a Patient With Persistent Müllerian Duct Syndrome.
Clinical genitourinary cancerPersistent Mullerian Duct Syndrome with Testicular Seminoma in Transverse Testicular Ectopia.
Journal of human reproductive sciencesTransverse testicular ectopia associated with persistent Müllerian duct syndrome treated by transseptal orchiopexy: A case report.
MedicinePersistent Mullerian Duct Syndrome: A Single-Center Experience.
Journal of Indian Association of Pediatric SurgeonsPersistent Mullerian duct syndrome: Report of two cases with phenotypical immunohistochemical profiling.
UrologiaRegulation of anti-Müllerian hormone (AMH) in males and the associations of serum AMH with the disorders of male fertility.
Asian journal of andrologySertoli 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[A rare cause of cryptorchidism, the persistence of müllerian ducts syndrome].
Revue medicale de LiegePersistent Müllerian Duct Syndrome in a German Shepherd Dog.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationRobotic removal of Müllerian duct remnants in pediatric patients: our experience and a review of the literature.
La Pediatria medica e chirurgica : Medical and surgical pediatricsCase 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 reportsA Novel Mutation of AMHR2 in Two Siblings with Persistent Müllerian Duct Syndrome.
Journal of clinical research in pediatric endocrinologyTransverse testicular ectopia with persistent mullerian duct syndrome.
BMJ case reportsRare case of transverse testicular ectopia - Case report and review of literature.
International journal of surgery case reportsManagement of the patients with persistent Müllerian duct syndrome: Is the ultimate goal testicular descent?
Turkish journal of urologyIncidentally 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 reportsPersistent Müllerian duct syndrome: A case report and review.
Experimental and therapeutic medicinePrevalence of the AMHR2 mutation in Miniature Schnauzers and genetic investigation of a Belgian Malinois with persistent Müllerian duct syndrome.
Reproduction in domestic animals = ZuchthygieneProstatic adenocarcinoma in the setting of persistent müllerian duct syndrome: a case report.
Human pathologyRe: 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 UrologyMRI findings of Persistent Mullerian Duct Syndrome: A Rare Case Report.
Journal of clinical and diagnostic research : JCDRPersistent Müllerian duct syndrome: A novel mutation in the Αnti-Müllerian Ηormone gene.
Hormones (Athens, Greece)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 reportsThe possible role of AMH in shortening the gubernacular cord in testicular descent: A reappraisal of the evidence.
Journal of pediatric surgeryRadiological Findings in Persistent Müllerian Duct Syndrome: Case Report and Review of Literature.
Journal of radiology case reportsCoincidence of Persistent Müllerian duct syndrome and testicular tumors in dogs.
BMC veterinary researchThe 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 differentiationPersistent Mullerian Duct Syndrome Presenting in an Incarcerated Recurrent Inguinal Hernia with Hydrocele.
Urology case reportsBilateral Cryptorchidism, a rare presentation for persistent Müllerian duct syndrome.
Electronic physicianTransverse testicular ectopia with scrotal hypospadias but without inguinal hernia - Case report of a rare association.
International journal of surgery case reportsNovel 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 differentiationPersistent Müllerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Müllerian Hormone Receptor Mutation.
Journal of clinical research in pediatric endocrinology[Persistent mullerian duct syndrome : Rare incidental finding during treatment of pediatric inguinal hernia].
Der Urologe. Ausg. ALaparoscopically assisted treatment of transverse testicular ectopia with persistent Müllerian duct syndrome: a case report and review of the literature.
HippokratiaTransverse testicular ectopia with a blind ending vas deferens.
Indian journal of urology : IJU : journal of the Urological Society of IndiaPresence of Germ Cells in Disorders of Sex Development: Implications for Fertility Potential and Preservation.
The Journal of urologyPersistent 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 UrologyMalignancy in disorders of sex development.
Translational andrology and urologyA Case of Chromosomal Disorders of Sex Development with Transverse Testicular Ectopia Mimicking Mixed Gonadal Dysgenesis.
Urology[Intra-Abdominal Germ Cell Tumor in Persistent Mullerian Duct Syndrome].
Hinyokika kiyo. Acta urologica JaponicaSurveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers.
Journal of veterinary scienceA Rare Case Report of Inguinal Hernia with Persistent Mullerian Duct and Klinefelter Syndrome.
Journal of clinical and diagnostic research : JCDRPersistent Müllerian Duct Syndrome Caused by a Novel Mutation of an Anti-MüIlerian Hormone Receptor Gene: Case Presentation and Literature Review.
Pediatric endocrinology reviews : PER[Persistent Müllerian duct syndrome due to a mutation in the anti-Müllerian hormone receptor gene (AMHR2)].
Anales de pediatria (Barcelona, Spain : 2003)Operative considerations for late-presenting persistent Müllerian duct syndrome.
Urology annalsPersistent mullerian duct syndrome: A 24-year experience.
Journal of pediatric surgeryPersistent mullerian duct syndrome presenting as retractile testis with hypospadias: A rare entity.
World journal of clinical casesPersistent 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 & microbiologyPersistent Mullerian Duct Syndrome with Ovarian Endometriosis-A Rare Case Report.
Journal of clinical and diagnostic research : JCDRPersistent Mullerian Duct Syndrome with Embryonal Cell Carcinoma along with Ectopic Cross Fused Kidney.
Journal of clinical and diagnostic research : JCDRPersistent Müllerian duct structures presenting as hematuria in an adult: Case report of robotic surgical removal and review of the literature.
Urology annalsLaparoscopic hysterectomy with bilateral orchidectomy for Persistent Mullerian duct syndrome with seminoma testes: Case report.
Journal of minimal access surgeryPreservation of müllerian structures with laparoscopic management of intra-abdominal testes in persistent müllerian duct syndrome.
Journal of pediatric urologyAetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population.
Hong Kong medical journal = Xianggang yi xue za zhiPersistent Müllerian Duct Syndrome (PMDS): a Rare Anomaly the General Surgeon Must Know About.
The Indian journal of surgeryLaparoscopic management of transverse testicular ectopia with persistent mullerian duct syndrome.
Journal of minimal access surgeryA novel mutation of AMH in three siblings with persistent Mullerian duct syndrome.
Journal of pediatric endocrinology & metabolism : JPEMThe management of the persistent Müllerian duct syndrome.
Arab journal of urologyPersistence of müllerian duct structures in a genetic male with distal monosomy 10q.
American journal of medical genetics. Part A[Persistent Müllerian ducts syndrome: one case of late hypofertility].
Morphologie : bulletin de l'Association des anatomistesAcute urinary retention caused by seminoma in a case of persistent Mullerian duct syndrome.
Indian journal of pathology & microbiologyFemale form of persistent mullerian duct syndrome: Rare entity.
Urology annalsUterine leiomyoma in a man with persistent Müllerian duct syndrome and seminoma.
The Israel Medical Association journal : IMAJPersistent Mullerian Duct Syndrome with Transverse Testicular Ectopia.
Journal of surgical technique and case reportAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Ainda não existe comunidade no Raras para Síndrome de canal de Müller persistente
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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.
- Persistent Müllerian duct syndrome - a rare but important cause of male factor infertility.
- Computed Tomographic and Ultrasonographic Features in Three Dogs with Infected Uterus Masculinus and Concurrent Genital Neoplasia.
- Transverse testicular ectopia: a case report on preoperative misdiagnosis in two siblings.
- An insight into the landscape of a rare tumor-persistent Mullerian duct syndrome with testicular seminoma.
- Fortuitous Persistent Müllerian Duct Syndrome Diagnosis in an Adult Patient With Hematuria: A Case Report.
- Persistent Müllerian Duct Syndrome on 18F-FDG PET/CT.
- Blood in semen as a clue: a case of persistent Müllerian Duct Syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2856(Orphanet)
- OMIM OMIM:261550(OMIM)
- MONDO:0009857(MONDO)
- GARD:8435(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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
