850 results match your criteria Gonadoblastoma

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

Med Pharm Rep 2022 Jan 31;95(1):47-53. Epub 2022 Jan 31.

Department of Pediatrics, Faculty of Medicine, Riga Stradins University, Riga, Latvia.

Background And Aim: Complete gonadal dysgenesis or Swyer syndrome is a rare genetic disorder characterized by 46,XY karyotype and female phenotype with undeveloped streak gonads and high malignancy risk. The condition usually manifests in teenage and young adults with delayed puberty and primary amenorrhea. The purpose of this study was to investigate the incidence and potential malignant outcomes of complete gonadal dysgenesis in Latvia. Read More

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January 2022

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

Hum Pathol 2022 Jun 12. Epub 2022 Jun 12.

Department of Pathology, University of Chicago, Pritzker School of Medicine, Chicago IL, Goldblatt Pavilion, 5841 S Maryland Ave, Chicago, IL 60637. Electronic address:

Genomic alterations are increasingly important in the current paradigms for the classification, diagnosis, and treatment of renal cell carcinoma. Bi-allelic alterations involving NF2 have been identified across a number of currently recognized subtypes of renal cell carcinoma including clear cell renal cell carcinoma and papillary renal cell carcinoma among others and may be associated with more a aggressive disease course as well as advanced stage at presentation. In addition, emerging evidence suggests the existence of a clinicopathologically distinct subset of renal cell carcinoma cases driven by bi-allelic loss of NF2 expression. Read More

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

J Pediatr Hematol Oncol 2022 Jun 8. Epub 2022 Jun 8.

Third Department of Pediatrics.

Frasier syndrome (FS) is a rare condition, caused by splice-site mutations of intron 9 in the Wilms' tumor suppressor gene 1 (WT1 gene). The WT1 protein is essential for urogenital development and patients with 46XY karyotype present with female (FS type 1) or male phenotype, gonadal dysgenesis, progressive glomerulopathy, and high risk of gonadoblastoma. We describe a female patient with an IVS9+4C>T donor splice-site mutation, who underwent a preventive gonadectomy at the age of 6 years due to imaging findings of dysplastic gonads. Read More

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Gonadoblastoma with Dysgerminoma Presenting as Virilizing Disorder in a Young Child with 46, XX Karyotype: A Case Report and Review of the Literature.

Case Rep Endocrinol 2022 23;2022:5666957. Epub 2022 May 23.

Department of Medical Oncology, IMS & SUM Medical College and Hospital, Bhubaneswar, Odisha, India.

Gonadoblastoma is a neoplasm containing an intimate mixture of germ cells and elements resembling immature granulosa or Sertoli cells. It has been considered as in situ germ cell malignancy that can be associated with malignant components. The tumor has been reported to almost exclusively develop in various types of gonadal gene mutation syndromes, such as in pure or mixed gonadal dysgenesis and among females carrying Y chromosome material. Read More

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Sex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46,XY cells: distinct gender phenotypes and germ cell tumour risks.

Syst Biol Reprod Med 2022 Aug 28;68(4):247-257. Epub 2022 Apr 28.

Department of Gynaecological Endocrinology & Infertility Disorders, Women Hospital, University of Heidelberg, Heidelberg, Germany.

")," individuals with rearranged Y chromosome breaks in their 46,XY cells are reported with male and female gender phenotypes and differences in germ cell tumour (GCT) risk. This raised the question of whether male or female gender and GCT risk depends on the site of the break and/or rearrangement of the individual´s Y chromosome. In this paper, we report molecular mapping of the breakpoint on the aberrant Y chromosome of 22 individuals with a 45,X/46,XY karyotype reared with a different gender. Read More

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

Int Cancer Conf J 2022 Apr 6;11(2):114-118. Epub 2022 Jan 6.

Department of Radiodiagnosis, Geetanjali Medical College & Hospital, Udaipur, India.

Gonadoblastoma is an extremely rare neoplasm of the ovary showing admixture of germ cells and sex cord cells. It may be associated with gonadal dysgenesis. Gonadoblastoma cells may give rise to individual germ cell tumours or mixed germ cell tumours with variable tumour components. Read More

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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) 2022 Mar 9;12(3). Epub 2022 Mar 9.

Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.

Dissecting gonadoblastoma (DGB) of the ovary, a recently described terminology, defines a unique distribution of neoplastic germ cells. Here, we report a case of incidental DGB coexistent with an atypical endometriotic cyst occurring in a 23-year-old woman. The ovarian cyst was lined by endometrial-like glands and stroma. Read More

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[Clinical Characterization of Patients with Ovarian Mass Combined with Dysplasia of Secondary Sexual Characteristics].

Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2022 Feb;44(1):17-23

Department of Obstetrics and Gynecology,National Clinical Research Center for Obstetric and Gynecologic Diseases,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.

Objective To investigate the clinical characteristics of preadolescent and adolescent female patients with ovarian mass combined with dysplasia of secondary sexual characteristics. Methods This study retrospectively analyzed 18 cases of ovarian mass combined with dysplasia of secondary sexual characteristics aged 0-19 years admitted to Peking Union Medical College Hospital from January 2012 to November 2019.By analyzing the clinical manifestations,surgical methods,postoperative pathology,therapies and prognosis of the cases,we summarized the diagnosis and treatment ideas. Read More

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February 2022

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

Maedica (Bucur) 2021 Dec;16(4):734-737

Histopathology Training Program, Oman Medical Specialty Board, Muscat, Oman.

Patients with Swyer syndrome, "XY gonadal dysgenesis", have fibrosed gonads with a significant risk of developing germ cell tumours. During radiological assessment, a 17-year-old female with Swyer syndrome showed mildly enlarged gonads that were removed laparoscopically and proved pathologically to be bilateral gonadoblastomas. In addition, the right sided lesion showed overgrowth by dysgerminoma. Read More

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December 2021

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

Zhonghua Bing Li Xue Za Zhi 2022 Mar;51(3):224-226

Department of Pathology, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai 200333, China.

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

Fetal Pediatr Pathol 2022 Feb 24:1-9. Epub 2022 Feb 24.

Department of Urology, Louisiana State University Health Sciences Center, New Orleans, LA, USA.

WT1 deletions are associated with nephroblastomas, WT mutations are associated with 46, XY sex reversal. It is unclear why only a few WT1 deletions are associated with sex reversal. . Read More

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February 2022

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

Reprod Fertil 2021 Apr 7;2(2):151-160. Epub 2021 Jun 7.

Department of Gynaecol. Endocrinology & Infertility Disorders, Women Hospital, University of Heidelberg, Germany.

The Ubiquitous Transcribed Y ( a.k.a. Read More

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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.

J Pediatr Adolesc Gynecol 2022 Jan 16. Epub 2022 Jan 16.

Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas; Division of Pediatric and Adolescent Gynecology, Texas Children's Hospital, Houston, Texas. Electronic address:

Background: Turner syndrome (TS) is a sex chromosome condition characterized by complete or partial loss of the X chromosome. Patients with mixed gonadal dysgenesis (45,X/46,XY) and a Turner phenotype are predisposed to gonadoblastoma with malignant transformation.

Case: We present the case of a TS patient with 45,X/46,XY with 2 episodes of left adnexal torsion (AT). Read More

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January 2022

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

Urol Int 2022 20;106(5):533-536. Epub 2021 Dec 20.

Department of Basic Sciences, Pediatrics Department - Hospital Universitario de Santander, Human Genetics UIS Research Group, Faculty of Health, Universidad Industrial de Santander, Bucaramanga, Colombia.

Mixed gonadal dysgenesis is the most common chromosomal abnormality with ambiguous genitalia, defined as a 45,X/46,XY mosaicism. It can present with a normal male phenotype, ambiguous genitalia, or features of Turner syndrome. A 14-year-old patient was referred to the genetics clinic due to hypospadia, cryptorchidism, and aortic coarctation. Read More

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Y Chromosome Material in Turner Syndrome.

Cureus 2021 Nov 29;13(11):e19977. Epub 2021 Nov 29.

Department of Pediatrics, Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, TUR.

Background Turner Syndrome (TS) is a frequently identified chromosomal disease in humans characterized by short stature, sexual infantilism, streak gonads, primary amenorrhea, and a number of somatic anomalies. Approximately 55% of TS individuals have a nonmosaic 45,X karyotype. In addition, a cell line with a Y chromosome is present in 5% of patients, which is undetectable by the standard cytogenetic analysis. Read More

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November 2021

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

Virchows Arch 2022 Feb 13;480(2):349-358. Epub 2021 Nov 13.

Department of Pathology, Charles University, Medical Faculty and Charles University Hospital Plzen, Alej Svobody 80, 304 60, Pilsen, Czech Republic.

Renal tumors are one of the most diverse groups of tumors in pathology. Many emerging and important entities have been described recently. Here, we describe a series of renal tumors occurring in adult patients, with distinct histologic features, and with a striking resemblance to gonadal sex cord-stromal tumors. Read More

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February 2022

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

Endocr Connect 2021 Nov 25;10(12):1522-1530. Epub 2021 Nov 25.

Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India.

Objective: The literature regarding gonadoblastoma risk in exonic Wilms' tumor suppressor gene (WT1) pathogenic variants is sparse. The aim of this study is to describe the phenotypic and genotypic characteristics of Asian-Indian patients with WT1 pathogenic variants and systematically review the literature on association of exonic WT1 pathogenic variants and gonadoblastoma.

Design: Combined retrospective-prospective analysis. Read More

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November 2021

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

Ann Pediatr Endocrinol Metab 2021 Dec 8;26(4):272-277. Epub 2021 Oct 8.

Division of Pediatric Endocrinology, Department of Pediatrics in Federal University of Sao Paulo (UNIFESP-EPM), Sao Paulo, Brazil.

Purpose: Turner syndrome is defined as total or partial loss of the second sex chromosome in a phenotypically female patient. Due to the possibility of hidden mosaicism of fragments of the Y chromosome and development of gonadoblastoma, we evaluated the presence of such fragments in 2 tissues with different embryonic origins, peripheral blood lymphocytes (mesoderm), and oral mucosal cells (ectoderm) using multiplex polymerase chain reaction.

Methods: DNA samples were collected from 109 patients, and primers for the SRY, TSPY, and AMELX genes were used. Read More

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December 2021

[Gonadal neoplastic related lesions in children with disorders of sexual development: a clinicopathological study of twelve cases].

Zhonghua Bing Li Xue Za Zhi 2021 Oct;50(10):1145-1150

Department of Pathology, Guangzhou Women and Children's Medical Center, Guangzhou 510623, China.

To investigate the clinicopathological features of gonadal neoplastic related lesions in children with disorders of sexual development (DsD). The clinical manifestations, chromosomal karyotype, histology and immunophenotype of 12 cases of neoplastic related lesions from Guangzhou Women and Children's Medical Center, Guangzhou were analyzed during Jan 2015 to May 2020. Twelve cases of neoplastic related lesions were screened in 205 cases of DsD, and 6 patients with gonadal germ cell neoplasia aged 3-13 years with an average age of 8. Read More

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October 2021

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.

Am J Surg Pathol 2022 05;46(5):664-676

Department of Pathology & Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN.

We describe 21 nonpure germinomatous gonadal germ cell tumors (9 with a germinoma component), all but 1 associated with gonadoblastoma, in patients with disorders of sex development who ranged from 7 to 36 years old (average, 20 y). Twenty patients were clinically described as phenotypic females with ambiguous genitalia/virilization and primary amenorrhea. The most common documented peripheral karyotype was 46,XY (10/12; 83%). Read More

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

J Clin Res Pediatr Endocrinol 2022 06 21;14(2):251-257. Epub 2021 Sep 21.

Medical University of Gdansk, Department of Pediatrics, Hematology and Oncology, Gdansk, Poland

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, affecting mainly patients of Slavic origin. It is caused by a defect in the gene, resulting in defective nibrin protein formation. This leads to chromosomal instability, which predisposes to cancer, with lymphoid malignancies predominating. Read More

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A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma.

Sex Dev 2022 10;16(1):55-63. Epub 2021 Sep 10.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Copy number variations of several genes involved in the process of gonadal determination have been identified as a cause of 46,XY differences of sex development. We report a non-syndromic 14-year-old female patient who was referred with primary amenorrhea, absence of breast development, and atypical genitalia. Her karyotype was 47,XY,+mar/46,XY, and FISH analysis revealed the X chromosome origin of the marker chromosome. Read More

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

Int J Surg Case Rep 2021 Sep 26;86:106355. Epub 2021 Aug 26.

Department of Plastic Surgery, Hanoi Medical University, No.1 Ton That Tung Street, Hanoi, Viet Nam. Electronic address:

Introduction And Importance: The partial androgen insensitivity syndrome (PAIS) is a rare genetic disorder, which needs to be diagnosed early and provided suitable treatment. One-stage sex reassignment surgery can be considered as one of the treatment options for PAIS patients.

Case Presentation: A 44-year-old patient with PAIS was admitted to our hospital. Read More

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September 2021

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

J Pediatr Adolesc Gynecol 2022 Feb 25;35(1):18-22. Epub 2021 Aug 25.

Department of Pediatric Surgery, Ege University Faculty of Medicine, İzmir, Turkey. Electronic address:

Study Objective: Antenatal ovarian torsion (AOT) is rare and requires differentiating from other congenital cystic masses of the abdomen and pelvis in neonates. In this study, it was aimed to evaluate the prenatal characteristics and postnatal outcomes of AOT. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: Hospital records of patients (n = 28) with diagnosis of AOT between 2004 and 2020 were reviewed and their prenatal characteristics, postnatal examination, imaging, operative, and histopathological findings were evaluated. Read More

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February 2022

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

Endocrinol Diabetes Metab Case Rep 2021 Jun 1;2021. Epub 2021 Jun 1.

Department of Service of Endocrinology, Diabetes, and Metabolism, Faculty of Biology and Medicine, University of Lausanne, Lausanne University Hospital, Lausanne, Vaud, Switzerland.

Summary: Complete androgen-insensitivity syndrome (CAIS), a disorder of sex development (46,XY DSD), is caused primarily by mutations in the androgen receptor (AR). Gonadectomy is recommended due to the increased risk of gonadoblastoma, however, surgical intervention is often followed by loss of libido. We present a 26-year-old patient with CAIS who underwent gonadectomy followed by a significant decrease in libido, which was improved with testosterone treatment but not with estradiol. Read More

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

J Pediatr Adolesc Gynecol 2021 Dec 11;34(6):869-871. Epub 2021 May 11.

Gynaecology Department, Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, United Kingdom.

Background: 46XY pure gonadal dysgenesis (Swyer syndrome) is a rare disorder of sexual development. Patients have a 46XY karyotype, though phenotypically they appear female with normal external genitalia and vagina. Although patients exhibit normal Müllerian structures (uterus, fallopian tubes, and vagina), they possess a pair of bilateral undifferentiated gonad streaks. Read More

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December 2021

Gonadoblastoma in Turner Syndrome: A Surprise in a Streak.

Urology 2021 08 4;154:278-280. Epub 2021 May 4.

Department of Urology, University of Kentucky, Lexington, KY. Electronic address:

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

Adv Anat Pathol 2021 Jul;28(4):258-275

Department of Pathology & Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN.

Testicular tumors are incredibly diverse and one of the most challenging areas in surgical pathology. Because of the rarity and overlapping features with numerous entities occurring in the testis and paratestis, these tumors pose a diagnostic challenge even to the most experienced general pathologists. In 2016, the latest "World Health Organization (WHO) classification of testicular tumors" was released, which incorporated several updates to the previous 2004 classification system. Read More

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

Gynecol Endocrinol 2021 Aug 19;37(8):730-734. Epub 2021 Apr 19.

Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.

Objective: To summarize the clinical characteristics of Turner syndrome (TS) with a small supernumerary marker chromosome (sSMC) and discuss the clinical significance and management of TS patients with sSMC.

Methods: A retrospective analysis was conducted on the clinical data of 244 patients with disorders of sexual development admitted to Peking Union Medical College Hospital from February 1984 to July 2020.

Results: Among the 244 patients with a disorder of sexual development, 69 cases of TS were identified in which 13 patients had sSMC. Read More

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