Raras
Buscar doenças, sintomas, genes...
Gonadoblastoma
ORPHA:206484CID-10 · D39.1OMIM 424500DOENÇA RARA

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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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.

Publicações científicas
871 artigos
Último publicado: 2026 Feb 23
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SUS: Sem cobertura SUSScore: 0%
CID-10: D39.1
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Sinais e sintomas

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

Partes do corpo afetadas

📏
Crescimento
3 sintomas
🫃
Digestivo
2 sintomas
🧬
Pele e cabelo
1 sintomas
👂
Ouvidos
1 sintomas

+ 7 sintomas em outras categorias

Características mais comuns

90%prev.
Gonadoblastoma ovariano
Muito frequente (99-80%)
90%prev.
Genitália externa feminina em indivíduo com cariótipo 46,XY
Muito frequente (99-80%)
90%prev.
Morfologia anormal do ovário
Muito frequente (99-80%)
55%prev.
Disgenesia gonadal com aparência feminina, masculina
Frequente (79-30%)
55%prev.
Calcificação gonadal
Frequente (79-30%)
55%prev.
Disgerminoma
Frequente (79-30%)
14sintomas
Muito frequente (3)
Frequente (3)
Ocasional (5)
Sem dados (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 14 características clínicas mais associadas, ordenadas por frequência.

Gonadoblastoma ovarianoOvarian gonadoblastoma
Muito frequente (99-80%)90%
Genitália externa feminina em indivíduo com cariótipo 46,XYFemale external genitalia in individual with 46,XY karyotype
Muito frequente (99-80%)90%
Morfologia anormal do ovárioAbnormality of the ovary
Muito frequente (99-80%)90%
Disgenesia gonadal com aparência feminina, masculinaGonadal dysgenesis with female appearance, male
Frequente (79-30%)55%
Calcificação gonadalGonadal calcification
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico871PubMed
Últimos 10 anos200publicações
Pico202230 papers
Linha do tempo
2026Hoje · 2026📈 2022Ano de pico🧪 2023Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Diagnóstico

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Tratamento e manejo

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Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
236 papers (10 anos)
#1

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 pathology2026 Feb 23

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.

#2

[Pediatric germ cell tumors: An update 2025].

Annales de pathologie2026 Feb 19

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.

#3

46,XY Gonadal Dysgenesis Due to NR0B1 Duplication: A Systematic Review.

Clinical endocrinology2026 Apr

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.

#4

Spectrum of gonadal morphology in disorders of sexual development: A case series.

Indian journal of pathology & microbiology2026 Jan 19

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.

#5

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 biology2026 Feb

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

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📚 EuropePMC364 artigos no totalmostrando 200

2026

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
2026

[Pediatric germ cell tumors: An update 2025].

Annales de pathologie
2026

46,XY Gonadal Dysgenesis Due to NR0B1 Duplication: A Systematic Review.

Clinical endocrinology
2025

Retrospective Evaluation of Childhood Germ Cell Tumors: A Single-Center Experience.

Children (Basel, Switzerland)
2026

Spectrum of gonadal morphology in disorders of sexual development: A case series.

Indian journal of pathology & microbiology
2025

Novel NR5A1 variants associated with hypospadias and disorders of sex development: A series case report of 4 patients.

Medicine
2025

Rare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review.

BMC pediatrics
2026

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
2025

A highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y).

Clinical and experimental reproductive medicine
2025

Tumours in children and adolescents with Turner syndrome and Klinefelter syndrome: a retrospective Chinese cohort study.

BMJ paediatrics open
2025

Gonadal Genetics and Germ Cell Tumor Risk in SRY-Negative 46,XX Testicular/Ovotesticular Disorders of Sex Development.

Hormone research in paediatrics
2025

A Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia.

Reports (MDPI)
2025

Pubertal Development as a Marker of Gonadal Neoplasm in 46XY Complete Gonadal Dysgenesis.

Journal of pediatric and adolescent gynecology
2025

Malignancy Risk in Turner Syndrome+Y, Early Gonadectomy, and the Ethics of Parental Choices.

Pediatrics
2025

Co-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 science
2025

PRRG4 Brain-Specific Conditional Knockout Mice Display Autism Spectrum Disorder-Like Behaviors.

Biological procedures online
2025

Campomelic 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 Society
2024

Unveiling the Uncommon: A Case Series on Rare Germ Cell Tumors.

Current health sciences journal
2025

Turner syndrome: fertility, familial clustering, and cancer risk.

Human reproduction (Oxford, England)
2025

Gonadal Tumors in Individuals with Turner Syndrome and Y-Chromosome Mosaicism: A Retrospective Multisite Study.

Journal of pediatric and adolescent gynecology
2024

Prenatal Diagnosis of Turner Syndrome Mosaicism: A Case Report.

Cureus
2024

Gonadoblastoma with Dysgerminoma in a Virilized Adolescent with Karyotype 46,XX: A Case Report and Review of the Literature.

Journal of clinical research in pediatric endocrinology
2024

Male hermaphroditism with rare malignant transformation of gonadal organs: a case report.

Discover oncology
2025

Histologic analysis of gonadal tissue in patients with Turner syndrome and Y chromosome material.

Journal of pediatric urology
2024

Mixed gonadal dysgenesis with gonadoblastoma diagnosed by prophylactic laparoscopic gonadectomy: A case report.

Experimental and therapeutic medicine
2024

SRY-positive 45,X/46,XY karyotype in a phenotypically Turner-like Chinese adolescent female with ovarian dysgerminoma and gonadoblastoma.

Journal of pediatric endocrinology & metabolism : JPEM
2023

A 10-YEAR STUDY OF CHILDREN WITH GONADAL TUMORS AND DISORDERS OF SEX DIFFERENTIATION, IN ROMANIA.

Acta endocrinologica (Bucharest, Romania : 2005)
2024

Pure 46, XY gonadal dysgenesis and 46, XY complete androgen insensitivity syndrome: A case report.

Medicine
2024

Endometriosis in a Prepubertal Patient with 46,XY Difference in Sex Development: A Case Report.

Journal of pediatric and adolescent gynecology
2023

[Gonadoblastoma: Clinicopathological study and literature review of 3 cases].

Zhonghua nan ke xue = National journal of andrology
2024

Challenges in the management of Turner syndrome with Y chromosome material: a case report of prophylactic gonadectomy revealing dysgerminoma.

International cancer conference journal
2023

Gonadoblastoma in a patient with 45,X/46XY mosaicism.

Ecancermedicalscience
2024

A Risk of Gonadoblastoma in Familial Swyer Syndrome-A Case Report and Literature Review.

Journal of clinical medicine
2024

WT1-related disorders: more than Denys-Drash syndrome.

Pediatric nephrology (Berlin, Germany)
2023

The Use of Fluorescence In situ Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome.

Journal of human reproductive sciences
2024

[Manifestations of Turner syndrome: don't miss the diagnosis].

Nederlands tijdschrift voor geneeskunde
2024

[Clinicopathological analysis of gonadal differentiation of sex development disorder].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2023

Rare 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
2024

[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
2024

[THREE CASES OF DENYS-DRASH SYNDROME WITH GONADOBLASTOMA].

Nihon Hinyokika Gakkai zasshi. The japanese journal of urology
2023

Mosaic Turner Variant Adult Female Presenting with XO/XY Karyotype.

Journal of human reproductive sciences
2023

A rare case of Swyer syndrome from Pakistan in a young girl with primary amenorrhea and 46XY genotype.

Women's health (London, England)
2023

Elucidating the Cancer Phenotype in Turner Syndrome: A 20-Year Observational Cohort Study.

Anticancer research
2023

Gonadoblastoma in Turner syndrome with puberty delay: A case report and literature review.

Molecular genetics & genomic medicine
2023

A Perplexing Case of a Germ Cell Tumor: A Case Report.

Journal of pediatric hematology/oncology
2023

Late presentation of Swyer syndrome: A case report.

Radiology case reports
2023

SIX1 as a Novel Immunohistochemical Marker in the Differential Diagnosis of Rhabdomyosarcoma.

Fetal and pediatric pathology
2024

Seminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the Literature.

Journal of clinical research in pediatric endocrinology
2023

Frasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy.

Children (Basel, Switzerland)
2023

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 endocrinology
2023

Tumour occurrence in women with Turner syndrome: A narrative review and single-centre case series.

Clinical endocrinology
2023

Gonadoblastoma in a patient with Swyer syndrome.

International journal of gynecological cancer : official journal of the International Gynecological Cancer Society
2023

Deferring gonadectomy in patients with turner syndrome with a genetic Y component is not a safe practice.

Journal of pediatric urology
2023

Yolk 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 childbirth
2022

Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review.

Frontiers in endocrinology
2022

45,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 reports
2022

Gonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma.

Frontiers in pediatrics
2022

Characteristics and karyotype analysis of a patient with turner syndrome complicated with multiple-site tumors: A case report.

Open life sciences
2022

Consensus guide on prophylactic gonadectomy in different sex development.

Endocrinologia, diabetes y nutricion
2022

Diagnostically misleading aberrant terminal deoxynucleotidyl transferase expression in germ cell tumors.

Polish journal of pathology : official journal of the Polish Society of Pathologists
2022

[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 pediatrics
2022

Prevalence 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 endocrinology
2022

The Mysteries of Primary Amenorrhea: Swyer Syndrome.

Cureus
2022

Benign cystic Teratoma and Gonadoblastoma developed in bilateral abdominal undescended testis.

Urology case reports
2022

Gonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies.

Frontiers in pediatrics
2022

Gonadal tumor development in 46,XX disorders of gonadal development.

European journal of endocrinology
2022

Complete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature.

Medicine and pharmacy reports
2023

The emerging role of NF2 alterations in new and established subtypes of renal cell carcinoma.

Human pathology
2022

Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy.

Journal of pediatric hematology/oncology
2022

Gonadoblastoma 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 endocrinology
2022

Sex 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 medicine
2022

A rare case of ovarian gonadoblastoma flourishing into malignant mixed germ cell tumour with review of literature.

International cancer conference journal
2022

Gonadectomy in Individuals with Turner Syndrome and Y Chromosome Material: Fertility Considerations.

Journal of pediatric and adolescent gynecology
2022

Dissecting 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)
2022

[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 Sinicae
2021

Bilateral Gonadoblastoma Overgrown by Dysgerminoma of the Right Gonad in a Patient with Swyer Syndrome.

Maedica
2022

[Clinicopathological analysis of 8 cases of gonadoblastoma in children].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2023

WAGR, Sex Reversal, Bilateral Gonadoblastomas, and Intralobar Nephrogenic Rests: Uncertainties of Pre-Biopsy Chemotherapy in a High Risk Syndrome for Nephroblastoma.

Fetal and pediatric pathology
2021

AZFa candidate gene UTY and its X homologue UTX are expressed in human germ cells.

Reproduction & fertility
2022

Adnexal 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 gynecology
2022

Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature.

Acta medica Lituanica
2022

45,X/46,XY Mosaicism with Male Phenotype: Case Report.

Urologia internationalis
2021

Y Chromosome Material in Turner Syndrome.

Cureus
2022

Renal cell tumor with sex-cord/gonadoblastoma-like features: analysis of 6 cases.

Virchows Archiv : an international journal of pathology
2021

Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma.

Endocrine connections
2021

Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue.

Annals of pediatric endocrinology & metabolism
2021

[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 pathology
2022

Malignant 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 pathology
2022

Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism.

Journal of clinical research in pediatric endocrinology
2022

A 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 differentiation
2021

One-stage sex reassignment surgery at the delayed presentation in a patient with partial androgen insensitivity syndrome: A case report.

International journal of surgery case reports
2022

The Role of Surgery in Antenatal Ovarian Torsion: Retrospective Evaluation of 28 Cases and Review of the Literature.

Journal of pediatric and adolescent gynecology
2021

Frasier Syndrome: A Rare Cause of Refractory Steroid-Resistant Nephrotic Syndrome.

Children (Basel, Switzerland)
2021

Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene.

Endocrinology, diabetes & metabolism case reports
2021

Swyer Syndrome: A Case of Dysgerminoma Solely within the Fallopian Tube.

Journal of pediatric and adolescent gynecology
2021

Gonadoblastoma in Turner Syndrome: A Surprise in a Streak.

Urology
2021

Testicular Tumors: A Contemporary Update on Morphologic, Immunohistochemical and Molecular Features.

Advances in anatomic pathology
2021

Clinical characteristics and management of Turner patients with a small supernumerary marker chromosome.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
2021

Disorders of sexual differentiation: Report of two rare cases.

Indian journal of pathology & microbiology
2021

A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl.

Pediatric endocrinology, diabetes, and metabolism
2020

Description of diagnosis of 45,X/46,XY ovotesticular DSD.

Ceska gynekologie
2021

Growth and relationship of phenotypic characteristics with gonadal pathology and tumour risk in patients with 45, X/46, XY mosaicism.

Clinical endocrinology
2021

Amenorrhoea with XY karyotype postbone marrow transplant.

BMJ case reports
2020

Gonadal dysgenesis in Turner syndrome with Y-chromosome mosaicism: Two case reports.

World journal of clinical cases
2020

Gonadal malignancy in patients with differences of sex development.

Translational andrology and urology
2020

Syndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment.

Translational andrology and urology
2020

XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing.

Pediatrics
2020

Gonadoblastoma 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 practice
2020

Unclassified Mixed Germ Cell-Sex Cord-Stromal Tumor of the Ovary: An Unusual Case Report.

Cureus
2021

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

Journal of clinical research in pediatric endocrinology
2020

Added value of buccal cell FISH analysis in the diagnosis and management of Turner syndrome.

Human reproduction (Oxford, England)
2020

A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.

Pediatric endocrinology reviews : PER
2022

Neoplasia in Turner syndrome: a retrospective cohort study in a tertiary referral centre in Belgium.

Acta clinica Belgica
2020

Bilateral Gonadoblastoma With Dysgerminoma in a Phenotypically Normal Female With 46XX Karyotype: Report of a Rare Case and Literature Review.

Cureus
2020

Seminoma with focal gonadoblastoma in anatomically normal male: A rare case report.

Indian journal of pathology & microbiology
2020

46, XY disorder of sex development (DSD) complicated by a serous borderline tumor of the ovary: a case report and review of the literature.

Diagnostic pathology
2020

46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/gonadoblastoma.

BMJ case reports
2020

Gonadoblastoma in individuals with a normal karyotype and no evidence of a disorder of sex development.

Pathology
2020

A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome.

Journal of pediatric and adolescent gynecology
2020

Oncologic outcomes of pre-malignant and invasive germ cell tumors in patients with differences in sex development - A systematic review.

Journal of pediatric urology
2020

Dysgerminoma in a Prepubertal Girl with Complete 46XY Gonadal Dysgenesis: Case Report and Review of the Literature.

Journal of pediatric and adolescent gynecology
2020

Seminoma In A Young Phenotypic Female With Turner Syndrome 45,XO/46,XY Mosaicism: A Case Report With Review Of The Literature.

Urology
2020

Disorder of sex development with germ cell tumors: Which is uncovered first?

Pediatric blood & cancer
2019

EARLY-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 reports
2020

Variation of Gonadal Dysgenesis and Tumor Risk in Patients With 45,X/46,XY Mosaicism.

Urology
2019

Molecular 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 Technologists
2019

Long-term outcome in a case series of Denys-Drash syndrome.

Clinical kidney journal
2020

Gonadoblastoma: origin and outcome.

Human pathology
2019

Endocrine Management of Ovotesticular DSD, an Index Case and Review of the Literature.

Pediatric endocrinology reviews : PER
2019

Germ Cell Tumors in Dysgenetic Gonads.

Clinics (Sao Paulo, Brazil)
2019

Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology.

International journal of molecular sciences
2019

A Rare Case of Swyer Syndrome in Two Sisters with Successful Pregnancy Outcome in Both.

Journal of human reproductive sciences
2019

Canine ovarian gonadoblastoma with dysgerminoma overgrowth: a case study and literature review.

Journal of ovarian research
2020

Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy.

Journal of pediatric and adolescent gynecology
2019

Telomeric association between chromosomes Y and 19 in a mosaic Turner with primary ovarian insufficiency.

The journal of obstetrics and gynaecology research
2019

Genetic Causes of Rare Pediatric Ovarian Tumors.

Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti
2019

Atypical Presentation of Swyer Syndrome.

Journal of pediatric and adolescent gynecology
2019

Usefulness of imprint cytology of gonadoblastoma with dysgerminoma in a patient with Turner syndrome and a Y chromosome: A case report and literature review.

Diagnostic cytopathology
2019

Dysgerminoma in a 10-Year Old with 45X/46XY Turner Syndrome Mosaicism.

Journal of pediatric and adolescent gynecology
2019

Gonadoblastoma-Associated Mixed Gonadal Germ Cell Tumor with Dysgerminoma and Hepatoid Yolk Sac Tumor Components in 46XY Gonadal Dysgenesis.

Journal of pediatric and adolescent gynecology
2019

Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism.

BMC pediatrics
2020

[Analysis of solid ovarian tumours in a Spanish paediatric population].

Anales de pediatria
2019

[Atypical genital development and tumor risk].

Bulletin du cancer
2019

Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis.

Molecular biology reports
2019

The 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 & bioscience
2019

Gonadoblastoma 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)
2019

'Size does matter': Prophylactic gonadectomy in a case of Swyer syndrome.

Journal of gynecology obstetrics and human reproduction
2019

Detection of the SRY gene in patients with Turner Syndrome.

Journal of gynecology obstetrics and human reproduction
2019

Once-Daily Low-Dose Cyclosporine A Treatment with Angiotensin Blockade for Long-Term Remission of Nephropathy in Frasier Syndrome.

The Tohoku journal of experimental medicine
2019

Early 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 Society
2018

Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis.

Archives of endocrinology and metabolism
2019

Classic 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 Pathologists
2019

The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center.

Journal of the Formosan Medical Association = Taiwan yi zhi
2018

Newly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies.

The Tohoku journal of experimental medicine
2018

[Pathologic features on gonadal changes of sexual developmental disorders in children].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2019

Recently 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 medicine
2018

Leukodystrophy with disorders of sex development due to WT1 mutations.

Journal of the neurological sciences
2018

Hepatocellular Carcinoma, Virilization, and Hilus Cell Hyperplasia in a Girl With Turner Syndrome.

Journal of the Endocrine Society
2018

Imaging findings of ovarian dysgerminoma with emphasis on multiplicity and vascular architecture: pathogenic implications.

Abdominal radiology (New York)
2017

A Case of Primary Amenorrhea with Swyer Syndrome.

Journal of human reproductive sciences
2017

WT1 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 differentiation
2018

Normal pelvic ultrasound or MRI does not rule out neoplasm in patients with gonadal dysgenesis and Y chromosome material.

Journal of pediatric urology
2018

Gonadal 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 & cancer
2017

Molecular 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 differentiation
2017

A 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 differentiation
2017

Adolescent 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 Society
2018

Malignant Mixed Germ Cell Tumor Overgrowing a Gonadoblastoma in a Female With a 46, XX Karyotype: A Case Report.

International journal of surgical pathology
2018

Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience.

Journal of pediatric urology
2018

Unexpected 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
2017

[Y chromosome in Turner syndrome].

Pediatric endocrinology, diabetes, and metabolism
2018

Classical gonadoblastoma: its relationship to the 'dissecting' variant and undifferentiated gonadal tissue.

Histopathology
2018

Metachronous Synovial Sarcoma After Treatment of Mixed Germ Cell Tumor in a Child with Complete Gonadal Dysgenesis.

Journal of clinical research in pediatric endocrinology
2017

Case 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 Pathologists
2017

Dysgerminoma and Gonadoblastoma with Para-aortic Lymph Node Metastasis in a Patient with Swyer Syndrome.

Chinese medical journal
2017

Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome.

Anticancer research
2017

Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk.

Hormone research in paediatrics
2017

Mixed 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 pathology
2017

A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.

American journal of medical genetics. Part C, Seminars in medical genetics
2017

Swyer Syndrome With Gonadoblastoma: A Clinicoradiological Approach.

Journal of human reproductive sciences
2017

Perspectives 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 pathology
2017

Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype.

Journal of pediatric urology
2017

Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material.

Hormones & cancer
2017

The Y-located proto-oncogene TSPY exacerbates and its X-homologue TSPX inhibits transactivation functions of androgen receptor and its constitutively active variants.

Human molecular genetics
2017

Fertility-Sparing Surgery Should Be the Standard Treatment in Patients with Malignant Ovarian Germ Cell Tumors.

Journal of adolescent and young adult oncology
2016

[Clinicopathologic analysis of gonadoblastoma].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2016

Familial forms of disorders of sex development may be common if infertility is considered a comorbidity.

BMC pediatrics
2016

Laparoscopic approach for gonadectomy in pediatric patients with intersex disorders.

Translational pediatrics
2017

Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence.

Clinical endocrinology
2016

No effect of testosterone on behavior in aged Wistar rats.

Aging
2017

The 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.

Histopathology
2016

Imaging Findings in Dysgerminoma in a Case of 46 XY, Complete Gonadal Dysgenesis (Swyer syndrome).

Journal of clinical and diagnostic research : JCDR
2016

Malignancy in disorders of sex development.

Translational andrology and urology
2016

A novel morphological approach to gonads in disorders of sex development.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
2016

Laparoscopic Removal of Streak Gonads in Turner Syndrome.

Journal of minimally invasive gynecology
2016

Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology.

Indian journal of pathology & microbiology
2017

The biology of germ cell tumors in disorders of sex development.

Clinical genetics
2017

Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome.

Hormone research in paediatrics
2016

Laparoscopy in the Surgical Treatment of Disorders of Sexual Development.

Journal of laparoendoscopic & advanced surgical techniques. Part A
2016

"Dissecting Gonadoblastoma" of Scully: A Morphologic Variant That Often Mimics Germinoma.

The American journal of surgical pathology
2016

Management of bilateral malignant ovarian germ cell tumors: Experience of a single institute.

Molecular and clinical oncology
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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

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

  1. 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· 2026· PMID 41724745mais citado
  2. [Pediatric germ cell tumors: An update 2025].
    Annales de pathologie· 2026· PMID 41720647mais citado
  3. 46,XY Gonadal Dysgenesis Due to NR0B1 Duplication: A Systematic Review.
    Clinical endocrinology· 2026· PMID 41611635mais citado
  4. Spectrum of gonadal morphology in disorders of sexual development: A case series.
    Indian journal of pathology & microbiology· 2026· PMID 41553048mais citado
  5. 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
  6. Retrospective Evaluation of Childhood Germ Cell Tumors: A Single-Center Experience.
    Children (Basel)· 2025· PMID 41597044recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:206484(Orphanet)
  2. OMIM OMIM:424500(OMIM)
  3. MONDO:0002697(MONDO)
  4. GARD:17100(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. 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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Gonadoblastoma
Compêndio · Raras BR

Gonadoblastoma

ORPHA:206484 · MONDO:0002697
CID-10
D39.1 · Neoplasia de comportamento incerto ou desconhecido do ovário
Início
Adolescent
MedGen
UMLS
C0206661
EuropePMC
Wikidata
Papers 10a
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