Neoplasia que surge do ovário e é composta de tecidos que se assemelham a disgerminoma ou seminoma e são misturados com tecidos do cordão sexual. É encontrada em crianças ou adultos jovens e geralmente está associada a anomalias secundárias dos órgãos sexuais. A maioria dos pacientes apresenta-se como mulheres fenotípicas com virilização. A minoria dos pacientes apresenta-se como homens fenotípicos com feminização. Geralmente afeta ambas as gônadas. Se um componente maligno de células germinativas estiver presente, ele pode metastatizar para outros locais anatômicos.
Introdução
O que você precisa saber de cara
Neoplasia que surge do ovário e é composta de tecidos que se assemelham a disgerminoma ou seminoma e são misturados com tecidos do cordão sexual. É encontrada em crianças ou adultos jovens e geralmente está associada a anomalias secundárias dos órgãos sexuais. A maioria dos pacientes apresenta-se como mulheres fenotípicas com virilização. A minoria dos pacientes apresenta-se como homens fenotípicos com feminização. Geralmente afeta ambas as gônadas. Se um componente maligno de células germinativas estiver presente, ele pode metastatizar para outros locais anatômicos.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 7 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 14 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
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Os sinais que médicos procuram e os exames que confirmam
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Publicações mais relevantes
International Society of Urological Pathology (ISUP) Consensus Conference on Precursor Lesions: Working Group 4 Precursor Lesions of Testis Results of a Premeeting Survey.
According to the current WHO classification, noninvasive germ cell neoplasia of the testis comprises germ cell neoplasia in situ (GCNIS), specific forms of intratubular germ cell neoplasia, and gonadoblastoma. Because type II germ cell tumors (GCT, type II) arise from GCNIS, accurate detection of precursor lesions is diagnostically important. In preparation for the 2024 International Society of Urological Pathology (ISUP) Consensus Conference on genitourinary precursor lesions, which took place in Florence, Italy, an anonymous survey was distributed to ISUP members to assess current diagnostic practices regarding testicular precursor lesions. The literature and current WHO classification affirm the significance of precursor lesions in testicular tumours. Working Group 4-Precursor Lesions of the Testis-focused on their practical application by individual pathologists rather than establishing consensus from scientific data. There is strong agreement that GCNIS is the preferred and appropriate term for GCT precursor lesions and that its presence should be reported in cases of invasive GCT. Respondents also agree that "seminoma with intratubular nonseminoma" is the appropriate terminology for seminoma with an associated noninvasive nonseminomatous (embryonal carcinoma, yolk sac tumor, trophoblasts, or teratoma) component. Most pathologists prefer to use OCT3/4 as the primary immunohistochemical marker, and a panel was generally not considered necessary. No consensus is reached regarding the requirement for immunohistochemistry to confirm GCT precursor lesions in the testis. Three questions remain open: the value of subtyping intratubular lesions, the immunohistochemical approach to gonadoblastoma, and the criteria distinguishing Sertoli cell nodules from Sertoli cell tumors.
[Pediatric germ cell tumors: An update 2025].
Pediatric germ cell tumors are a heterogeneous group of tumors that originate from primordial germ cells. The mechanisms leading to the development of a germ cell tumor combine a migration defect, explaining extragonadal sites, genetic and epigenetic alterations, and a permissive microenvironment. Pediatric germ cell tumors are rare, accounting for only 3% of childhood cancers, and are observed in many sites, both gonadal and extragonadal, and at different ages, from newborns to adults. The distribution is bimodal. A first peak is observed in early childhood with predominantly benign extragonadal tumors, particularly sacrococcygeal. A second peak begins in the prepubertal period with gonadal, cerebral, and mediastinal tumors. The histological aspects are identical to those in adults, but pediatric germ cell tumors have a different epidemiology and prognosis. For the first time, the 5th edition of the WHO tumor classification of 2022 devotes a volume to pediatric tumors and a chapter dedicated to germ cell tumors, whose originality lies in a comprehensive approach, independent of the organ, while integrating developmental, molecular biology, histological, and clinical management data. The prognosis for these tumors is generally good, and treatment takes into account the histological type and tumor staging, which depend on the pathological examination.
46,XY Gonadal Dysgenesis Due to NR0B1 Duplication: A Systematic Review.
Gonadal dysgenesis (GD) due to NR0B1 duplication is a subset of 46,XY disorder of sexual differentiation (DSD) characterised by variable external genitalia phenotypes ranging from complete GD (CGD) to partial GD (PGD) and may have syndromic associations. The DSD-phenotype spectrum and its correlation with genotype have not been systematically studied. A systematic review of 46,XY GD with NR0B1 duplication (n = 47, including two patients from our centre) was conducted to understand DSD phenotypes and their genotypic correlations. Large and submicroscopic duplications were observed in 61.7% and 38.3%, respectively, and maternal inheritance (asymptomatic carriers, except one) was reported in 63.3%. Median age at presentation was 1.0 (birth to 38) years, and syndromic manifestations were the cause in 55.3% and gonadal dysfunction-related symptoms in 42.5%. CGD, PGD, and typical male genitalia were seen in 66%, 27.7%, and 6.4%, respectively. Gender incongruence and fertility (except for one reported paternity) have not been reported. Gonadoblastoma and gonadal germ cell cancer were noted in 17% (median age: 11 years) and 2.1% (15 years of age) of cases, respectively. Compared with submicroscopic duplications, large duplications were associated with earlier presentation (0.7 vs. 15 years; p = 0.008) and higher prevalence of syndromic features (96.6% vs. 22.2%; p = 0.0001), while external genital phenotype, cryptorchidism, presence of mullerian structures, and gonadoblastoma rates were comparable. 46,XY GD phenotype with NR0B1 duplication does not correlate with duplicated segment size. A delineated spectrum of gonadal dysfunction, gender identity, fertility, and gonadal malignancy risk presented here can help to optimise patient management.
Spectrum of gonadal morphology in disorders of sexual development: A case series.
Disorders of sexual development (DSD) comprise a group of congenital conditions, occurring in approximately 1 in 4,500 to 5,500 newborns. Over a 3-year period, seven cases presented with ambiguous genitalia, primary amenorrhea, and abdominal masses and were admitted to our hospital's General Surgery and Gynaecology wards. Radiological, cytogenetics, and hormonal evaluation was done, followed by surgical excision and histopathological examination of the gonads. The study was conducted with proper written informed consent from parents and received approval from the Institutional Ethics Committee. Out of four cases diagnosed with mixed gonadal dysgenesis (MGD), one had dysgerminoma, one had both dysgerminoma and gonadoblastoma, and another had bilateral gonadoblastoma. Three other cases were diagnosed as ovo-testicular DSD. We experienced varied presentations of dysgenetic gonads in DSD - ovotestis to streak gonad and dysgenetic testis. Early diagnosis and categorization of disorders of sex development (DSD) are crucial to prevent adverse outcomes and ensure optimal management.
Perspective on postoperative hormone replacement therapy and fertility preservation in Swyer syndrome with dysgerminoma: a case series and literature review.
46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare disorder of sex development. Affected individuals present with a female phenotype but have streak gonads. They are at high risk of developing malignant germ cell tumours, such as dysgerminoma. Long-term hormone replacement therapy (HRT) is required after gonadectomy, but the safety of HRT in patients with malignant tumours is not clear. Case series and long-term follow-up of two phenotypic female adolescents with Swyer syndrome (46,XY karyotype) and dysgerminoma/gonadoblastoma (treated with fertility-sparing surgery + adjuvant bleomycin, etoposide and cisplatin chemotherapy + individualized oestrogen-progestogen HRT). Outcomes (tumour recurrence, uterine development, safety of HRT) were assessed over 6 and 10 years. A systematic review of 17 published studies (24 patients with Swyer syndrome, 30 pregnancies) was also conducted to analyse pregnancy-related outcomes. Neither of the two patients experienced tumour recurrence or significant HRT-related adverse events; uterine dimensions increased to near-normal adult size (Case 1: 3.2 × 3.1 × 1.6 cm → 4.4 × 3.6 × 2.1 cm; Case 2: 3.4 × 2.5 × 1.9 cm → 3.6 × 2.9 × 3.8 cm) with preserved secondary sexual characteristics. The systematic review revealed: high maternal comorbidity [83.3 % of pregnancies with complications, including 11 major events such as uterine rupture and haemolysis, elevated liver enzymes, low platelet count (HELLP) syndrome]; elevated preterm birth (35.7 %) and caesarean delivery (89.3 %) rates; and generally favourable neonatal outcomes (mean ± standard deviation birth weight 2704 ± 733 g, two fetal losses). Long-term postoperative HRT (6 and 10 years) in adolescents with Swyer syndrome and dysgerminoma (following curative surgery + chemotherapy) is safe, facilitates near-normal uterine development, and supports potential fertility without recurrence. Fertility-sparing surgery is feasible, and individualized HRT dosing is warranted. The systematic review further confirms high pregnancy-related complications but favourable neonatal outcomes in patients with Swyer syndrome. Vigilant long-term surveillance and large-scale prospective studies are needed to validate long-term safety.
Publicações recentes
International Society of Urological Pathology (ISUP) Consensus Conference on Precursor Lesions: Working Group 4 Precursor Lesions of Testis Results of a Premeeting Survey.
[Pediatric germ cell tumors: An update 2025].
🥉 Relato de caso46,XY Gonadal Dysgenesis Due to NR0B1 Duplication: A Systematic Review.
Retrospective Evaluation of Childhood Germ Cell Tumors: A Single-Center Experience.
Spectrum of gonadal morphology in disorders of sexual development: A case series.
📚 EuropePMC364 artigos no totalmostrando 200
International Society of Urological Pathology (ISUP) Consensus Conference on Precursor Lesions: Working Group 4 Precursor Lesions of Testis Results of a Premeeting Survey.
The American journal of surgical pathology[Pediatric germ cell tumors: An update 2025].
Annales de pathologie46,XY Gonadal Dysgenesis Due to NR0B1 Duplication: A Systematic Review.
Clinical endocrinologyRetrospective Evaluation of Childhood Germ Cell Tumors: A Single-Center Experience.
Children (Basel, Switzerland)Spectrum of gonadal morphology in disorders of sexual development: A case series.
Indian journal of pathology & microbiologyNovel NR5A1 variants associated with hypospadias and disorders of sex development: A series case report of 4 patients.
MedicineRare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review.
BMC pediatricsPerspective on postoperative hormone replacement therapy and fertility preservation in Swyer syndrome with dysgerminoma: a case series and literature review.
European journal of obstetrics, gynecology, and reproductive biologyA highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y).
Clinical and experimental reproductive medicineTumours in children and adolescents with Turner syndrome and Klinefelter syndrome: a retrospective Chinese cohort study.
BMJ paediatrics openGonadal Genetics and Germ Cell Tumor Risk in SRY-Negative 46,XX Testicular/Ovotesticular Disorders of Sex Development.
Hormone research in paediatricsA Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia.
Reports (MDPI)Pubertal Development as a Marker of Gonadal Neoplasm in 46XY Complete Gonadal Dysgenesis.
Journal of pediatric and adolescent gynecologyMalignancy Risk in Turner Syndrome+Y, Early Gonadectomy, and the Ethics of Parental Choices.
PediatricsCo-Occurrence of Ovarian Dysgerminoma-Inducing Gonadoblastoma and Two Distinct Mammary Carcinomas in a Dog: A Case Report and Review of the Literature.
Veterinary medicine and sciencePRRG4 Brain-Specific Conditional Knockout Mice Display Autism Spectrum Disorder-Like Behaviors.
Biological procedures onlineCampomelic Dysplasia With Sex Reversal, Gonadal Dysgenesis, and Bilateral Gonadoblastoma.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyUnveiling the Uncommon: A Case Series on Rare Germ Cell Tumors.
Current health sciences journalTurner syndrome: fertility, familial clustering, and cancer risk.
Human reproduction (Oxford, England)Gonadal Tumors in Individuals with Turner Syndrome and Y-Chromosome Mosaicism: A Retrospective Multisite Study.
Journal of pediatric and adolescent gynecologyPrenatal Diagnosis of Turner Syndrome Mosaicism: A Case Report.
CureusGonadoblastoma with Dysgerminoma in a Virilized Adolescent with Karyotype 46,XX: A Case Report and Review of the Literature.
Journal of clinical research in pediatric endocrinologyMale hermaphroditism with rare malignant transformation of gonadal organs: a case report.
Discover oncologyHistologic analysis of gonadal tissue in patients with Turner syndrome and Y chromosome material.
Journal of pediatric urologyMixed gonadal dysgenesis with gonadoblastoma diagnosed by prophylactic laparoscopic gonadectomy: A case report.
Experimental and therapeutic medicineSRY-positive 45,X/46,XY karyotype in a phenotypically Turner-like Chinese adolescent female with ovarian dysgerminoma and gonadoblastoma.
Journal of pediatric endocrinology & metabolism : JPEMA 10-YEAR STUDY OF CHILDREN WITH GONADAL TUMORS AND DISORDERS OF SEX DIFFERENTIATION, IN ROMANIA.
Acta endocrinologica (Bucharest, Romania : 2005)Pure 46, XY gonadal dysgenesis and 46, XY complete androgen insensitivity syndrome: A case report.
MedicineEndometriosis in a Prepubertal Patient with 46,XY Difference in Sex Development: A Case Report.
Journal of pediatric and adolescent gynecology[Gonadoblastoma: Clinicopathological study and literature review of 3 cases].
Zhonghua nan ke xue = National journal of andrologyChallenges in the management of Turner syndrome with Y chromosome material: a case report of prophylactic gonadectomy revealing dysgerminoma.
International cancer conference journalGonadoblastoma in a patient with 45,X/46XY mosaicism.
EcancermedicalscienceA Risk of Gonadoblastoma in Familial Swyer Syndrome-A Case Report and Literature Review.
Journal of clinical medicineWT1-related disorders: more than Denys-Drash syndrome.
Pediatric nephrology (Berlin, Germany)The Use of Fluorescence In situ Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome.
Journal of human reproductive sciences[Manifestations of Turner syndrome: don't miss the diagnosis].
Nederlands tijdschrift voor geneeskunde[Clinicopathological analysis of gonadal differentiation of sex development disorder].
Zhonghua bing li xue za zhi = Chinese journal of pathologyRare Case of a Turner Syndrome Patient with Metastatic Dysgerminoma and No Y-Chromosomal Material with Pathogenic Variants Found in KIT and MTOR.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation[Swyer syndrome with gonadal non-dysgerminoma malignant germ cell tumors: a report of 15 cases in a national medical center].
Zhonghua fu chan ke za zhi[THREE CASES OF DENYS-DRASH SYNDROME WITH GONADOBLASTOMA].
Nihon Hinyokika Gakkai zasshi. The japanese journal of urologyMosaic Turner Variant Adult Female Presenting with XO/XY Karyotype.
Journal of human reproductive sciencesA rare case of Swyer syndrome from Pakistan in a young girl with primary amenorrhea and 46XY genotype.
Women's health (London, England)Elucidating the Cancer Phenotype in Turner Syndrome: A 20-Year Observational Cohort Study.
Anticancer researchGonadoblastoma in Turner syndrome with puberty delay: A case report and literature review.
Molecular genetics & genomic medicineA Perplexing Case of a Germ Cell Tumor: A Case Report.
Journal of pediatric hematology/oncologyLate presentation of Swyer syndrome: A case report.
Radiology case reportsSIX1 as a Novel Immunohistochemical Marker in the Differential Diagnosis of Rhabdomyosarcoma.
Fetal and pediatric pathologySeminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the Literature.
Journal of clinical research in pediatric endocrinologyFrasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy.
Children (Basel, Switzerland)Undetectable anti-Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis.
Clinical endocrinologyTumour occurrence in women with Turner syndrome: A narrative review and single-centre case series.
Clinical endocrinologyGonadoblastoma in a patient with Swyer syndrome.
International journal of gynecological cancer : official journal of the International Gynecological Cancer SocietyDeferring gonadectomy in patients with turner syndrome with a genetic Y component is not a safe practice.
Journal of pediatric urologyYolk sac tumor and dysgerminoma in the left gonad following gonadoblastoma in the right gonad in a 46,XY DSD with a novel SRY missense mutation: a case report.
BMC pregnancy and childbirthOvarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review.
Frontiers in endocrinology45,X male - rare case of unbalanced translocation of Y chromosome to chromosome 2 presenting with developmental delay, learning difficulty and obesity.
Endocrinology, diabetes & metabolism case reportsGonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma.
Frontiers in pediatricsCharacteristics and karyotype analysis of a patient with turner syndrome complicated with multiple-site tumors: A case report.
Open life sciencesConsensus guide on prophylactic gonadectomy in different sex development.
Endocrinologia, diabetes y nutricionDiagnostically misleading aberrant terminal deoxynucleotidyl transferase expression in germ cell tumors.
Polish journal of pathology : official journal of the Polish Society of Pathologists[Human chorionic gonadotropin-secreting gonadoblastomas in a girl of 45, X Turner syndrome: a case report and literature review].
Zhonghua er ke za zhi = Chinese journal of pediatricsPrevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype.
European journal of endocrinologyThe Mysteries of Primary Amenorrhea: Swyer Syndrome.
CureusBenign cystic Teratoma and Gonadoblastoma developed in bilateral abdominal undescended testis.
Urology case reportsGonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies.
Frontiers in pediatricsGonadal tumor development in 46,XX disorders of gonadal development.
European journal of endocrinologyComplete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature.
Medicine and pharmacy reportsThe emerging role of NF2 alterations in new and established subtypes of renal cell carcinoma.
Human pathologyBilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy.
Journal of pediatric hematology/oncologyGonadoblastoma with Dysgerminoma Presenting as Virilizing Disorder in a Young Child with 46, XX Karyotype: A Case Report and Review of the Literature.
Case reports in endocrinologySex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46,XY cells: distinct gender phenotypes and germ cell tumour risks§.
Systems biology in reproductive medicineA rare case of ovarian gonadoblastoma flourishing into malignant mixed germ cell tumour with review of literature.
International cancer conference journalGonadectomy in Individuals with Turner Syndrome and Y Chromosome Material: Fertility Considerations.
Journal of pediatric and adolescent gynecologyDissecting Gonadoblastoma of the Ovary Coexistent with an Atypical Endometriotic Cyst: Incidental Detection in Cystectomy Specimen of a Woman with 46,XX Karyotype.
Diagnostics (Basel, Switzerland)[Clinical Characterization of Patients with Ovarian Mass Combined with Dysplasia of Secondary Sexual Characteristics].
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae SinicaeBilateral Gonadoblastoma Overgrown by Dysgerminoma of the Right Gonad in a Patient with Swyer Syndrome.
Maedica[Clinicopathological analysis of 8 cases of gonadoblastoma in children].
Zhonghua bing li xue za zhi = Chinese journal of pathologyWAGR, Sex Reversal, Bilateral Gonadoblastomas, and Intralobar Nephrogenic Rests: Uncertainties of Pre-Biopsy Chemotherapy in a High Risk Syndrome for Nephroblastoma.
Fetal and pediatric pathologyAZFa candidate gene UTY and its X homologue UTX are expressed in human germ cells.
Reproduction & fertilityAdnexal Torsion Due to Borderline Mucinous Tumor of the Gonad in a Prepubertal Girl with Mixed Gonadal Dysgenesis (45,X/46,XY) and a Turner Phenotype.
Journal of pediatric and adolescent gynecologyEarly Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature.
Acta medica Lituanica45,X/46,XY Mosaicism with Male Phenotype: Case Report.
Urologia internationalisY Chromosome Material in Turner Syndrome.
CureusRenal cell tumor with sex-cord/gonadoblastoma-like features: analysis of 6 cases.
Virchows Archiv : an international journal of pathologyExonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma.
Endocrine connectionsRecognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue.
Annals of pediatric endocrinology & metabolism[Gonadal neoplastic related lesions in children with disorders of sexual development: a clinicopathological study of twelve cases].
Zhonghua bing li xue za zhi = Chinese journal of pathologyMalignant Gonadal Germ Cell Tumors (Other Than Pure Germinoma) in Patients With Disorders of Sex Development: A Report of 21 Cases Based Largely on the Collection of Dr Robert E. Scully, Illustrating a High Frequency of Yolk Sac Tumor With Prominent Hepatoid and Glandular Features.
The American journal of surgical pathologyBilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism.
Journal of clinical research in pediatric endocrinologyA Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationOne-stage sex reassignment surgery at the delayed presentation in a patient with partial androgen insensitivity syndrome: A case report.
International journal of surgery case reportsThe Role of Surgery in Antenatal Ovarian Torsion: Retrospective Evaluation of 28 Cases and Review of the Literature.
Journal of pediatric and adolescent gynecologyFrasier Syndrome: A Rare Cause of Refractory Steroid-Resistant Nephrotic Syndrome.
Children (Basel, Switzerland)Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene.
Endocrinology, diabetes & metabolism case reportsSwyer Syndrome: A Case of Dysgerminoma Solely within the Fallopian Tube.
Journal of pediatric and adolescent gynecologyGonadoblastoma in Turner Syndrome: A Surprise in a Streak.
UrologyTesticular Tumors: A Contemporary Update on Morphologic, Immunohistochemical and Molecular Features.
Advances in anatomic pathologyClinical characteristics and management of Turner patients with a small supernumerary marker chromosome.
Gynecological endocrinology : the official journal of the International Society of Gynecological EndocrinologyDisorders of sexual differentiation: Report of two rare cases.
Indian journal of pathology & microbiologyA rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl.
Pediatric endocrinology, diabetes, and metabolismDescription of diagnosis of 45,X/46,XY ovotesticular DSD.
Ceska gynekologieGrowth and relationship of phenotypic characteristics with gonadal pathology and tumour risk in patients with 45, X/46, XY mosaicism.
Clinical endocrinologyAmenorrhoea with XY karyotype postbone marrow transplant.
BMJ case reportsGonadal dysgenesis in Turner syndrome with Y-chromosome mosaicism: Two case reports.
World journal of clinical casesGonadal malignancy in patients with differences of sex development.
Translational andrology and urologySyndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment.
Translational andrology and urologyXY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing.
PediatricsGonadoblastoma versus ovarian mixed germ cell-sex cord stromal tumor in women or girls with no evidence of a disorder of sex development: A problem in differential diagnosis.
Pathology, research and practiceUnclassified Mixed Germ Cell-Sex Cord-Stromal Tumor of the Ovary: An Unusual Case Report.
CureusUnusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin.
Journal of clinical research in pediatric endocrinologyAdded value of buccal cell FISH analysis in the diagnosis and management of Turner syndrome.
Human reproduction (Oxford, England)A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.
Pediatric endocrinology reviews : PERNeoplasia in Turner syndrome: a retrospective cohort study in a tertiary referral centre in Belgium.
Acta clinica BelgicaBilateral Gonadoblastoma With Dysgerminoma in a Phenotypically Normal Female With 46XX Karyotype: Report of a Rare Case and Literature Review.
CureusSeminoma with focal gonadoblastoma in anatomically normal male: A rare case report.
Indian journal of pathology & microbiology46, XY disorder of sex development (DSD) complicated by a serous borderline tumor of the ovary: a case report and review of the literature.
Diagnostic pathology46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/gonadoblastoma.
BMJ case reportsGonadoblastoma in individuals with a normal karyotype and no evidence of a disorder of sex development.
PathologyA Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome.
Journal of pediatric and adolescent gynecologyOncologic outcomes of pre-malignant and invasive germ cell tumors in patients with differences in sex development - A systematic review.
Journal of pediatric urologyDysgerminoma in a Prepubertal Girl with Complete 46XY Gonadal Dysgenesis: Case Report and Review of the Literature.
Journal of pediatric and adolescent gynecologySeminoma In A Young Phenotypic Female With Turner Syndrome 45,XO/46,XY Mosaicism: A Case Report With Review Of The Literature.
UrologyDisorder of sex development with germ cell tumors: Which is uncovered first?
Pediatric blood & cancerEARLY-ONSET GONADOBLASTOMA IN A 13-MONTH-OLD INFANT WITH 46,XY COMPLETE GONADAL DYSGENESIS IDENTIFIED WITH PRENATAL TESTING: A CASE OF CHROMOSOME 9p DELETION.
AACE clinical case reportsVariation of Gonadal Dysgenesis and Tumor Risk in Patients With 45,X/46,XY Mosaicism.
UrologyMolecular Cytogenetic Characterization of a Karyotype of a Female Patient with Secondary Amenorrhea with a Cell Line Showing 46,X,+mar.
Journal of the Association of Genetic TechnologistsLong-term outcome in a case series of Denys-Drash syndrome.
Clinical kidney journalGonadoblastoma: origin and outcome.
Human pathologyEndocrine Management of Ovotesticular DSD, an Index Case and Review of the Literature.
Pediatric endocrinology reviews : PERGerm Cell Tumors in Dysgenetic Gonads.
Clinics (Sao Paulo, Brazil)Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology.
International journal of molecular sciencesA Rare Case of Swyer Syndrome in Two Sisters with Successful Pregnancy Outcome in Both.
Journal of human reproductive sciencesCanine ovarian gonadoblastoma with dysgerminoma overgrowth: a case study and literature review.
Journal of ovarian researchTurner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy.
Journal of pediatric and adolescent gynecologyTelomeric association between chromosomes Y and 19 in a mosaic Turner with primary ovarian insufficiency.
The journal of obstetrics and gynaecology researchGenetic Causes of Rare Pediatric Ovarian Tumors.
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnostiAtypical Presentation of Swyer Syndrome.
Journal of pediatric and adolescent gynecologyUsefulness of imprint cytology of gonadoblastoma with dysgerminoma in a patient with Turner syndrome and a Y chromosome: A case report and literature review.
Diagnostic cytopathologyDysgerminoma in a 10-Year Old with 45X/46XY Turner Syndrome Mosaicism.
Journal of pediatric and adolescent gynecologyGonadoblastoma-Associated Mixed Gonadal Germ Cell Tumor with Dysgerminoma and Hepatoid Yolk Sac Tumor Components in 46XY Gonadal Dysgenesis.
Journal of pediatric and adolescent gynecologyGrowth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism.
BMC pediatrics[Analysis of solid ovarian tumours in a Spanish paediatric population].
Anales de pediatria[Atypical genital development and tumor risk].
Bulletin du cancerGene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis.
Molecular biology reportsThe Y-linked proto-oncogene TSPY contributes to poor prognosis of the male hepatocellular carcinoma patients by promoting the pro-oncogenic and suppressing the anti-oncogenic gene expression.
Cell & bioscienceGonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY.
Human reproduction (Oxford, England)'Size does matter': Prophylactic gonadectomy in a case of Swyer syndrome.
Journal of gynecology obstetrics and human reproductionDetection of the SRY gene in patients with Turner Syndrome.
Journal of gynecology obstetrics and human reproductionOnce-Daily Low-Dose Cyclosporine A Treatment with Angiotensin Blockade for Long-Term Remission of Nephropathy in Frasier Syndrome.
The Tohoku journal of experimental medicineEarly Bilateral Gonadoblastoma Associated With 45,X/46,XY Mosaicism: The Spectrum of Undifferentiated Gonadal Tissue and Gonadoblastoma in the First Months of Life.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyEarly development of a gonadal tumor in a patient with mixed gonadal dysgenesis.
Archives of endocrinology and metabolismClassic and "Dissecting" Gonadoblastoma in a Phenotypic Girl With a 46, XX Peripheral Karyotype and No Evidence of a Disorder of Sex Development.
International journal of gynecological pathology : official journal of the International Society of Gynecological PathologistsThe spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center.
Journal of the Formosan Medical Association = Taiwan yi zhiNewly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies.
The Tohoku journal of experimental medicine[Pathologic features on gonadal changes of sexual developmental disorders in children].
Zhonghua bing li xue za zhi = Chinese journal of pathologyRecently Described and Clinically Important Entities in Testis Tumors: A Selective Review of Changes Incorporated Into the 2016 Classification of the World Health Organization.
Archives of pathology & laboratory medicineLeukodystrophy with disorders of sex development due to WT1 mutations.
Journal of the neurological sciencesHepatocellular Carcinoma, Virilization, and Hilus Cell Hyperplasia in a Girl With Turner Syndrome.
Journal of the Endocrine SocietyImaging findings of ovarian dysgerminoma with emphasis on multiplicity and vascular architecture: pathogenic implications.
Abdominal radiology (New York)A Case of Primary Amenorrhea with Swyer Syndrome.
Journal of human reproductive sciencesWT1 Gene Mutation, p.R462W, in a 46,XY DSD Patient from Egypt with Gonadoblastoma and Review of the Literature.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationNormal pelvic ultrasound or MRI does not rule out neoplasm in patients with gonadal dysgenesis and Y chromosome material.
Journal of pediatric urologyGonadal dysgenesis is associated with worse outcomes in patients with ovarian nondysgerminomatous tumors: A report of the Children's Oncology Group AGCT 0132 study.
Pediatric blood & cancerMolecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationA Rare Case of Embryonal Carcinoma in a Patient with Turner Syndrome without Y Chromosomal Material but Mutations in KIT, AKT1, and ZNF358 Demonstrated Using Exome Sequencing.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationAdolescent Female With Turner's Syndrome and 46,X,der(Y) del(Y)(p11.2)del(q11.2) Karyotype With Gonadoblastoma and Dysgerminoma.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyMalignant Mixed Germ Cell Tumor Overgrowing a Gonadoblastoma in a Female With a 46, XX Karyotype: A Case Report.
International journal of surgical pathologyRisk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience.
Journal of pediatric urologyUnexpected diagnosis of stage IIA dysgerminoma in streak gonad in a patient with Swyer syndrome: a case report.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology[Y chromosome in Turner syndrome].
Pediatric endocrinology, diabetes, and metabolismClassical gonadoblastoma: its relationship to the 'dissecting' variant and undifferentiated gonadal tissue.
HistopathologyMetachronous Synovial Sarcoma After Treatment of Mixed Germ Cell Tumor in a Child with Complete Gonadal Dysgenesis.
Journal of clinical research in pediatric endocrinologyCase Report: Use of Tumor and Germline Y Chromosomal Analysis to Guide Surgical Management in a 46, XX Female Presenting With Gonadoblastoma With Dysgerminoma.
International journal of gynecological pathology : official journal of the International Society of Gynecological PathologistsDysgerminoma and Gonadoblastoma with Para-aortic Lymph Node Metastasis in a Patient with Swyer Syndrome.
Chinese medical journalLaparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome.
Anticancer researchPrevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk.
Hormone research in paediatricsMixed Gonadal Germ Cell Tumor Composed of a Spermatocytic Tumor-Like Component and Germinoma Arising in Gonadoblastoma in a Phenotypic Woman With a 46, XX Peripheral Karyotype: Report of the First Case.
The American journal of surgical pathologyA practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.
American journal of medical genetics. Part C, Seminars in medical geneticsSwyer Syndrome With Gonadoblastoma: A Clinicoradiological Approach.
Journal of human reproductive sciencesPerspectives on testicular sex cord-stromal tumors and those composed of both germ cells and sex cord-stromal derivatives with a comparison to corresponding ovarian neoplasms.
Human pathologyClinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype.
Journal of pediatric urologyRisk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material.
Hormones & cancerThe Y-located proto-oncogene TSPY exacerbates and its X-homologue TSPX inhibits transactivation functions of androgen receptor and its constitutively active variants.
Human molecular geneticsFertility-Sparing Surgery Should Be the Standard Treatment in Patients with Malignant Ovarian Germ Cell Tumors.
Journal of adolescent and young adult oncology[Clinicopathologic analysis of gonadoblastoma].
Zhonghua bing li xue za zhi = Chinese journal of pathologyFamilial forms of disorders of sex development may be common if infertility is considered a comorbidity.
BMC pediatricsLaparoscopic approach for gonadectomy in pediatric patients with intersex disorders.
Translational pediatricsGonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence.
Clinical endocrinologyNo effect of testosterone on behavior in aged Wistar rats.
AgingThe World Health Organization 2016 classification of testicular non-germ cell tumours: a review and update from the International Society of Urological Pathology Testis Consultation Panel.
HistopathologyImaging Findings in Dysgerminoma in a Case of 46 XY, Complete Gonadal Dysgenesis (Swyer syndrome).
Journal of clinical and diagnostic research : JCDRMalignancy in disorders of sex development.
Translational andrology and urologyA novel morphological approach to gonads in disorders of sex development.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncLaparoscopic Removal of Streak Gonads in Turner Syndrome.
Journal of minimally invasive gynecologyUnilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology.
Indian journal of pathology & microbiologyThe biology of germ cell tumors in disorders of sex development.
Clinical geneticsEarly Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome.
Hormone research in paediatricsLaparoscopy in the Surgical Treatment of Disorders of Sexual Development.
Journal of laparoendoscopic & advanced surgical techniques. Part A"Dissecting Gonadoblastoma" of Scully: A Morphologic Variant That Often Mimics Germinoma.
The American journal of surgical pathologyManagement of bilateral malignant ovarian germ cell tumors: Experience of a single institute.
Molecular and clinical oncologyAssociações
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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.
- International Society of Urological Pathology (ISUP) Consensus Conference on Precursor Lesions: Working Group 4 Precursor Lesions of Testis Results of a Premeeting Survey.
- [Pediatric germ cell tumors: An update 2025].
- 46,XY Gonadal Dysgenesis Due to NR0B1 Duplication: A Systematic Review.
- Spectrum of gonadal morphology in disorders of sexual development: A case series.
- Perspective on postoperative hormone replacement therapy and fertility preservation in Swyer syndrome with dysgerminoma: a case series and literature review.European journal of obstetrics, gynecology, and reproductive biology· 2026· PMID 41317609mais citado
- Retrospective Evaluation of Childhood Germ Cell Tumors: A Single-Center Experience.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:206484(Orphanet)
- OMIM OMIM:424500(OMIM)
- MONDO:0002697(MONDO)
- GARD:17100(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q5581320(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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