825 results match your criteria Gonadoblastoma


Swyer Syndrome: A case of dysgerminoma solely within the fallopian tube.

J Pediatr Adolesc Gynecol 2021 May 11. Epub 2021 May 11.

Gynaecology Department, Manchester University NHS Foundation Trust, Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, United Kingdom.

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

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Gonadoblastoma in Turner Syndrome: A surprise in a streak.

Urology 2021 May 4. 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 Apr 12. Epub 2021 Apr 12.

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 Apr 19:1-5. 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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Disorders of sexual differentiation: Report of two rare cases.

Indian J Pathol Microbiol 2021 Apr-Jun;64(2):390-393

Department of Paediatric Urology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.

Gonadal dysgenesis is a distinct variety of Disorders of Sexual Differentiation (DSD) characterised by incomplete or defective formation of the gonads due to either structural or numerical anomalies of the sex chromosomes or mutations in the genes involved in the development of the gland. Here we present two such rare cases that presented during childhood. Both patients presented with ambiguous genitalia with a 45XO/46XY mosaic chromosome pattern. Read More

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

Pediatr Endocrinol Diabetes Metab 2021 ;27(1):62-67

Department of Medical and Molecular Biology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland.

A disorder of sex development (DSD) is defined as a congenital condition in which development of chromosomal, gonadal, or anatomical sex is atypical. Swyer syndrome is an example of 46,XY DSD with a female phenotype. It usually becomes apparent in adolescence with delayed puberty and amenorrhoea. Read More

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January 2021

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

Ceska Gynekol 2020 ;85(4):259-262

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

Design: Case report.

Setting: Department of Medical Genetics, KZ a. Read More

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February 2021

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

Clin Endocrinol (Oxf) 2021 Feb 7. Epub 2021 Feb 7.

Istanbul Faculty of Medicine, Pediatric Endocrinology Unit, Istanbul University, Istanbul, Turkey.

Objective: To evaluate the growth data, gonadal functions and tumour risk in children with 45, X/46, XY mosaicism.

Design: We reviewed retrospectively the records of 45 patients with 45, X/46, XY mosaicism or variants presented to our Unit from 1989 to 2019.

Results: The age at diagnosis ranged from 0. Read More

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February 2021

Amenorrhoea with XY karyotype postbone marrow transplant.

BMJ Case Rep 2021 Feb 5;14(2). Epub 2021 Feb 5.

Department of Endocrinology, Dubai Hospital, Dubai, UAE.

A 17-year-old girl presented with secondary amenorrhoea. She developed normal age-appropriate secondary sexual characteristics and attained menarche at the age of 13 years. One year following her menarche, she was diagnosed with acute myeloid leukaemia and was treated with chemotherapy, total body radiation and bone marrow transplant with complete remission. Read More

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February 2021

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

World J Clin Cases 2020 Nov;8(22):5737-5743

Department of Pediatric Endocrinology, Affiliated Hospital of Medical College Qingdao University, Qingdao 266001, Shandong Province, China.

Background: Turner syndrome (TS) has a variety of different karyotypes, with a wide range of phenotypic features, but the specific karyotype may not always predict the phenotype. TS with Y chromosome mosaicism may have mixed gonadal dysgenesis, and the mosaicism is related to the potential for gonadoblastoma.

Case Summary: In this case report, we report two cases of TS with different karyotypes and gonadal dysgenesis. Read More

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November 2020

Gonadal malignancy in patients with differences of sex development.

Transl Androl Urol 2020 Oct;9(5):2408-2415

Department of Urology, University of Kentucky, Lexington, KY, USA.

Differences of sexual development (DSD) are known to be associated with an elevated risk of malignant and pre-malignant tumors. However, given the rarity of DSD and tumors in patients with DSD, more robust, large scale, prospective literature is required to truly determine the extent of this association, long-term outcomes and the nuances associated with the wide variety of DSD diagnoses. In addition, the spectrum of diagnoses and nomenclature has been ever-changing, limiting assessment of long-term patient outcomes. Read More

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October 2020

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

Transl Androl Urol 2020 Oct;9(5):2370-2381

Pediatric Urology, Children's Hospital of Michigan, Detroit, MI, USA.

Predisposing syndromes associated with an increased risk of Wilms tumor (WT) are responsible for 9-17% of all cases of the malignancy. Due to an earlier age at WT diagnosis and an increased incidence of bilateral and metachronous disease, management of syndromic WT warrants a distinct approach from that of non-syndromic WT. This review of English-language manuscripts about WT focuses on the most common syndromes, surveillance protocols and current treatment strategies. Read More

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October 2020

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

Pediatrics 2020 11 15;146(5). Epub 2020 Oct 15.

Divisions of Endocrinology,

We report a 16-year-old phenotypic female with 46,XY complete gonadal dysgenesis and metastatic dysgerminoma, unexpectedly discovered through direct-to-consumer (DTC) commercial genetic testing. This case underscores the importance of timely interdisciplinary care, including psychosocial intervention and consideration of gonadectomy, to optimize outcomes for individuals with differences of sex development. Her unique presentation highlights the implications of DTC genetic testing in a new diagnostic era and informs general pediatricians as well as specialists of nongenetic services about the value, capabilities, and limitations of DTC testing. Read More

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November 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.

Pathol Res Pract 2020 Nov 5;216(11):153198. Epub 2020 Sep 5.

Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Van Nuys Medical Science Building 128, 635 Barnhill Drive, Indianapolis, IN 46240-5120, United States; Department of Urology, Indiana University School of Medicine, Indianapolis, IN 46240-5120, United States.

Gonadoblastoma occurring in a normal girl or woman has been confused with ovarian mixed germ cell-sex cord stromal tumor (MGC-SCST) due to a lack of knowledge that the former occurs occasionally in a normal woman or girl. In this article, we develop histological criteria that facilitate the distinction of gonadoblastoma in an individual with a normal karyotype and no evidence of a disorder of sex development from ovarian MGC-SCST. We reviewed the histological findings of gonadoblastoma occurring in normal individuals and compared them to cases of ovarian MGC-SCST in our files. Read More

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November 2020

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

Cureus 2020 Jul 23;12(7):e9350. Epub 2020 Jul 23.

Gynecologic Oncology, Clinica de Oncologia Astorga, Universidad Pontificia Bolivariana, Medellín, COL.

Unclassified mixed germ cell-sex cord-stromal tumor (UMGC-SCST) is a rare ovarian neoplasm composed of germ cells and sex cord elements, which occurs in genetically and phenotypically normal women without the usual histological features seen in gonadoblastoma. Few cases have been reported in the literature so far. The age of presentation is more frequent in girls younger than 10 years of age, although it can also occur in adult women. Read More

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

J Clin Res Pediatr Endocrinol 2020 08 25. Epub 2020 Aug 25.

Medical Laboratory Unit, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.

We describe a 46,XX girl with Denys-Drash syndrome (DDS), showing both kidney disease and genital abnormalities, in whom a misdiagnosis of hyperandrogenism was made. A 15 year-old girl was affected by neonatal nephrotic syndrome, progressing to end stage kidney failure. Hair loss and voice deepening were noted during puberty. Read More

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

Hum Reprod 2020 10;35(10):2391-2398

Sorbonne Université, Service d'Endocrinologie, diabétologie et médecine de la reproduction, Hôpital Saint-Antoine, AP-HP, Paris, France.

Study Question: Is there an added diagnosis value of buccal cell FISH analysis compared with blood lymphocyte chromosomal investigations in patients with Turner syndrome (TS)?

Summary Answer: Buccal cell FISH analysis, a non-invasive technique, modified the chromosomal results obtained with the blood karyotype in 17 patients (12%) of our cohort.

What Is Known Already: Few studies have evaluated buccal cell FISH analysis and compared them with blood karyotype in patients with TS.

Study Design, Size, Duration: A prospective, monocentric cohort study was conducted in a rare diseases centre (CMERC) between July 2017 and August 2019. Read More

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October 2020

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

Pediatr Endocrinol Rev 2020 Aug;17(4):302-307

Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center, Jerusalem, Israel, E-mail:

Frasier syndrome (FS), a rare disease caused by inherited or de novo mutation in Wilm's Tumor suppressor gene 1 (WT1), is characterized by slow progressive nephropathy, XY gonadal dysgenesis (XY-DSD), and increased risk for gonadal tumors. Early childhood (1-6 years) nephropathy progresses with age to refractory nephrotic syndrome, and end-stage renal failure in late adolescence, when delayed puberty and/or primary amenorrhea are clinically evident. We report a unique case of FS presenting initially with primary amenorrhea at 16 years, without previous or concomitant renal damage. Read More

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

Acta Clin Belg 2020 Aug 11:1-7. Epub 2020 Aug 11.

Department of Adult Endocrinology, University Hospitals Leuven , Leuven, Belgium.

Objectives: Patients with Turner syndrome (TS), the most common sex chromosome abnormality in women, can suffer from a variety of well-researched reproductive, cardiovascular, metabolic, and autoimmune comorbidities. Few studies investigate the neoplasia risk. We assessed the general neoplasia risk in TS women, and more specifically, the gonadoblastoma/dysgerminoma risk in the subgroup with Y chromosome mosaicism, and evaluated potential risk factors for neoplasia development, such as karyotype, metabolic and autoimmune comorbidity, and treatment with growth hormone and/or estrogen replacement. Read More

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

Cureus 2020 Jul 3;12(7):e8990. Epub 2020 Jul 3.

Histopathology, Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi, PAK.

Gonadoblastoma is a rare ovarian neoplasm which belongs to "germ cell-sex cord-stromal tumor" category. This tumor is frequently associated with invasive germ cell malignancy. It commonly arises in dysgenetic gonads of young individuals who are phenotypically females but possess 46XY karyotype. Read More

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

Indian J Pathol Microbiol 2020 Jul-Sep;63(3):472-474

Department of Pathology, Karnataka Institute of Medical Sciences, Hubli, Karnataka, India.

Gonadoblastomas are unusual gonadal neoplasias that frequently appear in dysgenetic gonads. Approximately 80% of patients are phenotypic females and 20% are males. A very high frequency is associated with malignant germ cell tumor. Read More

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

Diagn Pathol 2020 Jul 23;15(1):93. Epub 2020 Jul 23.

Department of Pathology, Mianyang Hospital of T.C.M, Mianyang, Sichuan, 621000, P.R. China.

Background: Patients with 46, XY disorder of sex development (DSD) are predisposed to the development of gonadal tumors, particularly germ cell tumors and gonadoblastoma. However, to the best of our knowledge, there are no publications in the existing literature that refer to the coexistence of 46, XY DSD and serous tumors in the ovary.

Case Presentation: Here, we report the case of a 23-year-old female (social gender) patient with 46, XY DSD presenting with primary amenorrhea. Read More

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

BMJ Case Rep 2020 Jul 7;13(7). Epub 2020 Jul 7.

Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, Delhi, India.

Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis and Y-chromosome material are at a high risk of developing gonadoblastoma and dysgerminoma. A 16-year-old girl presented with progressive virilisation, poor breast development and primary amenorrhea. Read More

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

Pathology 2020 08 29;52(5):605-607. Epub 2020 Jun 29.

Department of Pathology, Indiana University School of Medicine, Indianapolis, IN, USA; Department of Urology, Indiana University School of Medicine, Indianapolis, IN, USA.

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

J Pediatr Adolesc Gynecol 2020 Oct 19;33(5):577-580. Epub 2020 Jun 19.

Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan. Electronic address:

Background: Swyer syndrome is a difference of sex development that is typically associated with mutations in genes responsible for testicular development. It is speculated that some cases may result from cryptic 45,X/46,XY mosaicism leading to abnormal gonadal development. The presence or absence of a 45,X lineage is important for prognosis and management. Read More

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October 2020

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

J Pediatr Urol 2020 10 23;16(5):576-582. Epub 2020 May 23.

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

Objective: To describe the rates of GCNIS-free and GCT-free pathology based on age at gonadal surgery and to describe long-term oncologic outcomes in patients with DSD who have GCNIS or GCT at the time of gonadal surgery.

Study Design: A systematic review was conducted using MEDLINE to identify patients with DSD who underwent gonadal surgery. DSD diagnoses were stratified based on malignancy risk. Read More

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October 2020

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

J Pediatr Adolesc Gynecol 2020 Oct 5;33(5):599-601. Epub 2020 May 5.

Vilnius University, Faculty of Medicine, Clinic of Gastroenterology, Nephrourology and Surgery, Vilnius, Lithuania.

Background: Complete 46XY gonadal dysgenesis (Swyer syndrome) is a rare and challenging diagnosis among prepubertal girls, as estrogen insufficiency becomes evident only during adolescence, with nonspecific symptoms such as primary amenorrhea and/or delayed puberty. Unfortunately, girls with Swyer syndrome are at high risk for malignancies in the dysgenetic gonads, which can be prevented only by performing prophylactic bilateral gonadectomy.

Case: We present a 9-year-old patient with Swyer syndrome diagnosed with dysgerminoma in the right gonad and gonadoblastoma in the left gonad after prophylactic bilateral gonadectomy. Read More

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October 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 May 10;139:168-170. Epub 2020 Feb 10.

University of Utah, Division of Pediatric Urology, Salt Lake City, UT.

Turner syndrome is a chromosomal disorder that occurs in an estimated 1 in 2500 female live births. It is estimated that 6%-12% of all Turner syndrome patients will be a mosaic with Y-chromosomal elements putting them at risk for gonadoblastoma and subsequent dysgerminoma. While 30%-50% of this population demonstrate gonadoblastoma, we only found 23 reported cases of dysgerminoma in the literature, and no reported cases of seminoma. Read More

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