799 results match your criteria Gonadoblastoma


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

J Pediatr Adolesc Gynecol 2020 May 4. Epub 2020 May 4.

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 only becomes evident during adolescence with non-specific symptoms, such as primary amenorrhea and/or delayed puberty. Unfortunately, girls with Swyer syndrome are at high risk of malignancies in the dysgenetic gonads, which can only be prevented 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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http://dx.doi.org/10.1016/j.jpag.2020.04.007DOI Listing

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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http://dx.doi.org/10.1016/j.urology.2020.01.031DOI Listing

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

Pediatr Blood Cancer 2020 Apr 4;67(4):e28169. Epub 2020 Feb 4.

Institut de Pathologie Multisite, Groupement hospitalier Est, Hospices Civils de Lyon, UCBL Lyon 1 University, Lyon, France.

Background: Disorders of sex development (DSD) are rare conditions. Although they are known to predispose to germ cell tumors (GCT), there is a paucity of information regarding the circumstances of DSD discovery.

Design/methods: All patients with DSD registered in two French pediatric GCT protocols (TGM95 and 13) were analyzed. Read More

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http://dx.doi.org/10.1002/pbc.28169DOI Listing
April 2020
2.562 Impact Factor

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 Clin Case Rep 2019 Nov-Dec;5(6):e380-e383. Epub 2019 Aug 14.

Objective: Individuals with 46,XY complete gonadal dysgenesis (CGD) are at high risk of developing gonadal neoplasms. Chromosome 9p monosomy with deletion of the gene, a key transcription factor in testicular development, is one of the known causes of 46,XY CGD. Noninvasive prenatal testing (NIPT) is being increasingly used, and can identify disorders of sexual development (DSDs). Read More

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http://dx.doi.org/10.4158/ACCR-2019-0285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873848PMC

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

Urology 2020 Mar 27;137:157-160. Epub 2019 Dec 27.

Department of Pathology, Osaka Women's and Children's Hospital, Osaka, Japan.

Objective: To describe the gonadal features of patients with 45,X/46,XY mosaicism, and to evaluate the prevalence of gonadal tumor in different phenotypes.

Materials And Methods: The medical records of consecutive patients with 45,X/46,XY karyotype or its variants who had undergone gonadal biopsy or gonadectomy at a single institute between 1996 and 2017 were retrospectively reviewed.

Results: Of 34 patients with 45,X/46,XY mosaicism, a unilateral dysgenetic testis and a contralateral streak gonad was detected in 20 patients (59%), bilateral streak gonads in 9 (26%), and bilateral dysgenetic testes in 5 (15%). Read More

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http://dx.doi.org/10.1016/j.urology.2019.12.014DOI Listing

Molecular Cytogenetic Characterization of a Karyotype of a Female Patient with Secondary Amenorrhea with a Cell Line Showing 46,X,+mar.

J Assoc Genet Technol 2019 ;45(4):180-186

The International Circle of Genetic Studies Chapter Los Angeles, CA.

Objectives: Disorders of sex development (DSD) include a group of conditions in which genotypes do not correlate with the typical male and female phenotypes. Numerical and structural abnormalities involving both autosomes and sex chromosomes have been observed in DSD. Specifically, deletions, duplications, and translocations involving specific genes as well as point mutations and less common aberrations have been implicated in the pathogenesis of these conditions. Read More

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January 2019

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

Clin Kidney J 2019 Dec 16;12(6):836-839. Epub 2019 Mar 16.

Pediatric Nephrology, Hospital Universitario Vall d'Hebron, Passeig de la Vall d'Hebron, Barcelona, Spain.

Background: Denys-Drash syndrome (DDS) is a rare disease caused by mutations in exons 8 and 9 of the gene. It is characterized by the association of early onset steroid-resistant nephrotic syndrome (SRNS), Wilms' tumour and, in some patients, intersex disorders, with increasing risk of gonadoblastoma. There are few published data concerning the long-term outcome of patients with DDS. Read More

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http://dx.doi.org/10.1093/ckj/sfz022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885669PMC
December 2019

Gonadoblastoma: origin and outcome.

Hum Pathol 2019 Dec 2. Epub 2019 Dec 2.

Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN 46202-5120; Department of Urology, Indiana University School of Medicine, Indianapolis, IN 46202-5120.

Classical gonadoblastoma occurs almost entirely in the dysgenetic gonads of an individual who has a disorder of sex development; however, a small number of cases arise in individuals with a normal peripheral karyotype and no evidence of a disorder of sex development. Those gonadoblastomas that occur in an individual who has a Y chromosome or part thereof express testis specific protein Y-encoded 1 (TSPY1). If a gonad in those individuals contains germ cells with delayed maturation and also harbors the TSPY1 gene, the cells can undergo transformation to classical gonadoblastoma. Read More

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http://dx.doi.org/10.1016/j.humpath.2019.11.005DOI Listing
December 2019

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

Pediatr Endocrinol Rev 2019 Dec;17(2):110-116

Endocrinology and Diabetes, Children's Hospital of Philadelphia, 3500 Civic Center Blvd, Philadelphia, PA 19104, USA, E-mail:

Ovotesticular Differences in Sexual Development (OT-DSD) is a rare subset of DSD with great phenotypic variability characterized by the presence of both testicular and ovarian tissue in the same individual. Here, we describe the case of 46,XX, SRY-negative baby with ambiguous genitalia and ovotestis discovered during laparoscopy. As the family decided on female gender of rearing, the testicular component of the ovotestis was removed while the ovarian component was preserved. Read More

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http://dx.doi.org/10.17458/per.vol17.2019.kmv.endocrineovotesticulardsdDOI Listing
December 2019
11 Reads

Germ Cell Tumors in Dysgenetic Gonads.

Clinics (Sao Paulo) 2019 11;74:e408. Epub 2019 Nov 11.

Departamento de TocoGinecologia, Universidade Federal do Parana, Curitiba, PR, BR.

This review describes the germ cell neoplasms that are malignant and most commonly associated with several types of gonadal dysgenesis. The most common neoplasm is gonadoblastoma, while others including dysgerminomas, yolk-sac tumors and teratomas are rare but can occur. The purpose of this review is to evaluate the incidences of these abnormalities and the circumstances surrounding these specific tumors. Read More

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http://dx.doi.org/10.6061/clinics/2019/e408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6827326PMC
January 2020

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

Int J Mol Sci 2019 Oct 10;20(20). Epub 2019 Oct 10.

Department of Pathology, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

The risk of gonadal germ cell cancer (GGCC) is increased in selective subgroups, amongst others, defined patients with disorders of sex development (DSD). The increased risk is due to the presence of part of the Y chromosome, i.e. Read More

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http://dx.doi.org/10.3390/ijms20205017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834166PMC
October 2019
1 Read
2.862 Impact Factor

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

J Hum Reprod Sci 2019 Jul-Sep;12(3):267-269

Department of Obstetrics and Gynecology, Jindal IVF and Sant Memorial Nursing Home, Chandigarh, India.

Swyer syndrome is a disorder of sex development characterized by gonadal dysgenesis in a phenotypic female with normally developed Mullerian structures but a 46XY karyotype resulting from failure of testicular development in the early embryogenesis. It can have X-linked, Y-linked, or autosomal inheritance. We had a case of two sisters who presented with primary amenorrhea and primary infertility. Read More

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http://dx.doi.org/10.4103/jhrs.JHRS_14_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764226PMC
October 2019
4 Reads

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

J Ovarian Res 2019 Sep 23;12(1):89. Epub 2019 Sep 23.

Department of Pathology and Molecular Immunology of the Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Rua Jorge Viterbo Ferreira nr.228, 4050-313, Porto, Portugal.

Background: Gonadoblastoma (GB) is a rare mixed germ cell-sex cord-stromal tumour, first described in humans, commonly found in dysgenetic gonads of intersex patients that have a Y chromosome. However, this entity in not recognized in the WHO classification of tumours of genital system of domestic animals. Herein, we describe a case of ovarian gonadoblastoma with proliferation of dysgerminoma and sex cord-stromal tumour components, in a phenotypically and cytogenetically normal bitch. Read More

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http://dx.doi.org/10.1186/s13048-019-0561-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6757443PMC
September 2019
3 Reads

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

J Pediatr Adolesc Gynecol 2020 Feb 26;33(1):10-14. Epub 2019 Aug 26.

Division of Pediatric Endocrinology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

Study Objective: Girls with Turner syndrome with Y-chromosome material (TS + Y) are assumed to have nonfunctional gonads with increased tumor risk, therefore prophylactic gonadectomy is recommended at diagnosis. In this study we aimed to determine rates of spontaneous thelarche (ST) and spontaneous menarche (SM), and prevalence of gonadal tumor and malignancy in girls with TS + Y, to further inform discussions about gonadectomy.

Design: Retrospective review of clinical and pathology data. Read More

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http://dx.doi.org/10.1016/j.jpag.2019.08.011DOI Listing
February 2020
5 Reads

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

J Obstet Gynaecol Res 2019 Nov 27;45(11):2293-2296. Epub 2019 Aug 27.

Center for Genetic Studies & Research, The Madras Medical Mission, Chennai, India.

A rare case of telomeric association between Y and 19 chromosomes in a 24-year-old patient with primary ovarian insufficiency is being reported. Clinical evaluation revealed a webbed neck, high-arched palate and short stature with absence of axillary hair. Small uterus and streak gonads were noted on pelvic ultrasonography. Read More

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http://dx.doi.org/10.1111/jog.14098DOI Listing
November 2019
13 Reads

Genetic Causes of Rare Pediatric Ovarian Tumors.

Klin Onkol 2019 ;32(Supplementum2):79-91

Background: Ovarian tumors in childhood and adolescence are distinguished from those that arise in adulthood by their histological subtype. These tumors may arise as the first manifestation of a cancer predisposition syndrome. Correct diagnosis of the syndrome may offer the possibility of surveillance for other members of the patients family. Read More

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http://dx.doi.org/10.14735/amko2019S79DOI Listing
January 2020
8 Reads

Atypical Presentation of Swyer Syndrome.

J Pediatr Adolesc Gynecol 2019 Dec 26;32(6):645-647. Epub 2019 Jul 26.

Department of Obstetrics and Gynecology, Istanbul University School of Medicine, Istanbul, Turkey.

Background: Swyer syndrome is a rare type of disorder of sex development and typically presents with delayed puberty and primary amenorrhea. We describe an unusual presentation of this condition.

Case: A 17-year-old female patient with typical thelarche and adrenarche presented with primary amenorrhea. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10833188193024
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http://dx.doi.org/10.1016/j.jpag.2019.07.007DOI Listing
December 2019
4 Reads

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

Diagn Cytopathol 2019 Nov 23;47(11):1203-1207. Epub 2019 Jul 23.

Department of Pathology, Dokkyo Medical University.

Ovarian gonadoblastoma coexisting with a dysgerminoma is extremely rare in patients with Turner syndrome (TS) and a Y chromosome. The cytological findings, including imprint cytology, of these unusual ovarian tumors have rarely been reported. We report a rare patient with a gonadoblastoma with dysgerminoma, 3. Read More

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http://dx.doi.org/10.1002/dc.24282DOI Listing
November 2019
12 Reads

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

J Pediatr Adolesc Gynecol 2019 Oct 4;32(5):555-557. Epub 2019 Jul 4.

Department of Surgery, Children's Mercy Hospitals, Kansas City, MO.

Background: Turner syndrome is a genetic disorder resulting from the absence of or structural abnormality of one X chromosome. The presence of Y chromosome material in girls with Turner syndrome confers an increased risk of benign and malignant germ cell tumor and prophylactic bilateral gonadectomy is recommended.

Case: A 10-year-old Turner mosaic syndrome (45X/46XY) patient underwent prophylactic gonadectomy after unremarkable preoperative pelvic imaging. Read More

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http://dx.doi.org/10.1016/j.jpag.2019.06.008DOI Listing
October 2019
2 Reads

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

J Pediatr Adolesc Gynecol 2019 Oct 6;32(5):558-560. Epub 2019 Jun 6.

Department of Anatomic Pathology, University of Campinas, Campinas, São Paulo, Brazil.

Background: Disorders of sex development are congenital conditions with atypical chromosomal, gonadal, or anatomical sex development. Gonadal dysgenesis in patients containing a Y chromosome have a high risk of developing germ cell tumors with potential for malignant transformation.

Case: We present the case of a 17-year-old phenotypic female with primary amenorrhea and 46,XY complete gonadal dysgenesis. Read More

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http://dx.doi.org/10.1016/j.jpag.2019.05.014DOI Listing
October 2019
8 Reads

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

BMC Pediatr 2019 05 6;19(1):143. Epub 2019 May 6.

Director of Endocrinology department, Shenzhen Children's Hospital, No. 7019, Yitian Road, Shenzhen, 518038, Guangdong Province, People's Republic of China.

Background: The aim of this study was to review the growth data, gonadal function and tumour risk of children and adolescents with 45,X/46,XY mosaicism who presented to a single centre in China.

Methods: We conducted a retrospective review of the records of 32 patients with 45,X/46,XY mosaicism or variants who were hospitalized from August 2005 to September 2018. The main outcomes measured were growth data, genital phenotype, gonadal function, gonadal position, and histological results. Read More

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https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887
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http://dx.doi.org/10.1186/s12887-019-1520-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501323PMC
May 2019
15 Reads

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

An Pediatr (Barc) 2020 Feb 8;92(2):88-93. Epub 2019 Apr 8.

UGC Cirugía Pediátrica, Hospital Universitario Reina Sofía, Córdoba, España.

Introduction And Objectives: Ovarian tumours are rare in childhood, and account for 1-5% of all tumours. The aim of this study is to determine the epidemiological features, histological subtypes, and therapeutic management of ovarian solid ovarian tumours of the paediatric population of the province of Cordoba, in Spain.

Material And Methods: A retrospective, descriptive, observational and institutional study was conducted in which a review was made of the clinical histories of patients younger than 14years-old diagnosed with ovarian tumours, excluding secondary tumours in a University Hospital between 1994 and 2017. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S16954033193007
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http://dx.doi.org/10.1016/j.anpedi.2019.02.002DOI Listing
February 2020
24 Reads

[Atypical genital development and tumor risk].

Bull Cancer 2019 May 23;106(5):461-467. Epub 2019 Mar 23.

Groupement hospitalier Est, hospices Civils de Lyon, institut Multisite de pathologie, 69500 Bron, France.

Atypical genital development (AGD), also called disorders of sex development are a set of miscellaneous pathologies who have in common a morphological and/or functional abnormality of the internal and/or external genital organs. The Chicago classification identifies 3 major groups based on karyotype, hormone balance and genetic studies. Some AGD predispose to the occurrence of tumors, mainly malignant germ cell tumors. Read More

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http://dx.doi.org/10.1016/j.bulcan.2019.01.018DOI Listing
May 2019
12 Reads

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

Mol Biol Rep 2019 Jun 16;46(3):2971-2978. Epub 2019 Mar 16.

Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Cra 7 No. 40-62, Bogotá, 110231, Colombia.

Two sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome, secondary to a duplication in DAX-1, possibly inherited of maternal gonadal mosaicism. Copy number variation and functional effects of the duplication were done by MLPA multiplex ligation-dependent probe amplification and real time PCR. DAX-1, also known as dosage sensitive sex reversal gene (DSS), is considered the most likely candidate gene involved in XY gonadal dysgenesis when overexpressed. Read More

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http://dx.doi.org/10.1007/s11033-019-04758-yDOI Listing
June 2019
6 Reads

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 Biosci 2019 4;9:22. Epub 2019 Mar 4.

1Division of Cell and Developmental Genetics, Department of Medicine, Veterans Affairs Medical Center, University of California, San Francisco, 4150 Clement Street, San Francisco, CA 94121 USA.

Background: Liver cancer is one of the major causes of cancer death worldwide, with significantly higher incidence and mortality among the male patients. Although sex hormones and their receptors could contribute to such sex differences, the story is incomplete. Genes on the male-specific region of the Y chromosome could play a role(s) in this cancer. Read More

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http://dx.doi.org/10.1186/s13578-019-0287-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399826PMC
March 2019
2 Reads

Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY.

Hum Reprod 2019 04;34(4):770-779

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

Study Question: Which Y genes mapped to the 'Gonadoblastoma Y (GBY)' locus on human Y chromosome are expressed in germ cells of individuals with some Differences of Sexual Development (DSD) and a Y chromosome in their karyotype (DSD-XY groups)?

Summary Answer: The GBY candidate genes DDX3Y and TSPY are expressed in the germ cells of DSD-XY patients from distinct etiologies: patients with mixed gonadal dysgenesis (MGD) and sex chromosome mosaics (45,X0/46,XY; 46,XX/46,XY); patients with complete androgen insensitivity (CAIS), patients with complete gonadal dysgenesis (CGD; e.g. Swyer syndrome). Read More

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https://academic.oup.com/humrep/advance-article/doi/10.1093/
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http://dx.doi.org/10.1093/humrep/dez004DOI Listing
April 2019
35 Reads

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

J Gynecol Obstet Hum Reprod 2019 Apr 25;48(4):283-286. Epub 2019 Jan 25.

Department of Cytology and Gynecological Pathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Swyer syndrome also known as pure or complete gonadal dysgenesis is a very rare disorder of sex development wherein the individuals are phenotypically females with 46, XY genotype and preserved mullerian structures. These individuals characteristically have dysgenetic streak gonads which carry an increased risk of malignant transformation. Prophylactic gonadectomy is highly recommended as soon as a clinical diagnosis is established to diminish the chances of tumor development. Read More

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http://dx.doi.org/10.1016/j.jogoh.2019.01.009DOI Listing
April 2019
6 Reads

Detection of the SRY gene in patients with Turner Syndrome.

J Gynecol Obstet Hum Reprod 2019 Apr 24;48(4):265-267. Epub 2019 Jan 24.

Pediatric Endocrinology Clinic, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey.

Background: If turner syndrome (TS) patients have a Y-containing cell line, they have an increased risk for gonadal tumors. TS patients are therefore screened for Y-chromosome and Y-specific sequences, such as SRY, DYZ1, DYZ3, DYS132, ZFY, TSPY, etc. In addition, since the dysgenetic gonad may include the stroma and granulosa/sertoli cells, which produce androgens, virilization can seen in girls with Y-chromosomal material. Read More

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http://dx.doi.org/10.1016/j.jogoh.2019.01.012DOI Listing
April 2019
4 Reads

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

Tohoku J Exp Med 2019 01;247(1):35-40

Department of Pediatrics, Red Cross Sendai Hospital.

Cyclosporine A is known to be effective in some genetic podocyte injury. However, the efficacy of cyclosporine A depends on the degree of histopathological findings, and the relationship between long-term use and renal prognosis remains unknown. Frasier syndrome is a rare genetic disorder caused by intronic mutations in WT1, and is characterized by progressive glomerulopathy, a 46,XY disorder of sex development, and an increased risk of gonadoblastoma. Read More

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https://www.jstage.jst.go.jp/article/tjem/247/1/247_35/_arti
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http://dx.doi.org/10.1620/tjem.247.35DOI Listing
January 2019
25 Reads

Early Bilateral Gonadoblastoma Associated With 45,X/46,XY Mosaicism: The Spectrum of Undifferentiated Gonadal Tissue and Gonadoblastoma in the First Months of Life.

Pediatr Dev Pathol 2019 Jul-Aug;22(4):380-385. Epub 2019 Jan 15.

2 Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

45,X/46,XY mosaicism is one of a heterogenous group of congenital conditions known as differences (disorders) of sex development (DSD) that results in abnormal development of internal and external genitalia. Patients with DSD, particularly those with segments of the Y chromosome, are at increased risk for germ cell tumors including gonadoblastoma. Gonadoblastoma is a neoplasm comprised of a mixture of germ cells and elements resembling immature granulosa or Sertoli cells with or without Leydig cells or lutein-type cells in an ovarian type stroma. Read More

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http://journals.sagepub.com/doi/10.1177/1093526618824469
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http://dx.doi.org/10.1177/1093526618824469DOI Listing
January 2020
43 Reads
0.857 Impact Factor

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

Arch Endocrinol Metab 2018 ;62(6):644-647

Grupo Interdisciplinar de Estudos da Determinação e Diferenciação do Sexo (GIEDDS), Faculdade de Ciências Médicas, Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brasil.

A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis. Gonadal biopsies at the age of 3 months revealed dysgenetic testes and a gonadoblastoma on the right testis. Even though gonadal tumors are rare in childhood, this case indicates that prophylactic removal of dysgenetic gonads should be performed as early as possible, especially when the female sex is assigned to a patient with a Y-chromosome sequence. Read More

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http://dx.doi.org/10.20945/2359-3997000000091DOI Listing
February 2019
7 Reads

Classic and "Dissecting" Gonadoblastoma in a Phenotypic Girl With a 46, XX Peripheral Karyotype and No Evidence of a Disorder of Sex Development.

Int J Gynecol Pathol 2019 Nov;38(6):581-587

Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana (L.M.R.) Spectrum Health, Grand Rapids, Michigan (M.M.D.) Patho-Lab Diagnostics, Nes-Ziona, Israel (B.C.).

Herein, we report a case of a 9-yr-old girl who had a 46, XX peripheral karyotype and apparent developmentally normal ovaries. She presented with abdominal pain and a right adnexal mass. No clinical or pathologic evidence of gonadal dysgenesis or undifferentiated gonadal tissue was detected. Read More

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http://dx.doi.org/10.1097/PGP.0000000000000551DOI Listing
November 2019
5 Reads

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

J Formos Med Assoc 2019 Jan 14;118(1 Pt 3):450-456. Epub 2018 Jul 14.

Department of Pediatrics, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address:

Background/purpose: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. Here, we present our experience in the management of 45,X/46,XY Taiwanese children.

Patients And Methods: We enrolled 19 patients from January 1981 to September 2016. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09296646183021
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http://dx.doi.org/10.1016/j.jfma.2018.07.003DOI Listing
January 2019
36 Reads

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

Tohoku J Exp Med 2018 07;245(3):187-191

Department of Urology, Miyagi Children's Hospital.

Campomelic dysplasia (CD) is a skeletal dysplasia characterized by shortened and bowed long bones, airway instability, the potential for disorders of sexual differentiation (DSD), and Pierre Robin Sequence (PRS) with cleft palate, midface hypoplasia and laryngotrachemomalacia. CD is caused by alterations in the Sex-determining region of the Y chromosome (SRY)-related-box 9 (SOX9), which has important roles in tissue and sexual differentiation. The SOX9 gene and the enhancer regions of SOX9 are located at chromosome 17q24. Read More

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https://www.jstage.jst.go.jp/article/tjem/245/3/245_187/_art
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http://dx.doi.org/10.1620/tjem.245.187DOI Listing
July 2018
27 Reads
1.283 Impact Factor

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

Zhonghua Bing Li Xue Za Zhi 2018 Jul;47(7):531-535

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

To investigate the pathologic features of gonadal tissues of disorders of sexual development (DSD) in children. Fifty-three cases of gonadal developmental disorders were collected from July 2015 to August 2017 at Guangzhou Women and Children's Medical Center. Clinical manifestations, karyotypes, sex hormone levels, ultrasound imaging, histology and immunophenotype of gonadal tissues were analyzed. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-5807.2018.07.010DOI Listing
July 2018
52 Reads

Recently Described and Clinically Important Entities in Testis Tumors: A Selective Review of Changes Incorporated Into the 2016 Classification of the World Health Organization.

Arch Pathol Lab Med 2019 06 27;143(6):711-721. Epub 2018 Jun 27.

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

Context.—: In 2016 the World Health Organization published a revised classification of testicular neoplasms based upon advances in understanding their pathogenesis and molecular biology. The rationale for this revision and additional clinically relevant observations were the topics of a talk given to the Houston Society of Clinical Pathologists in April 2017. Read More

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http://dx.doi.org/10.5858/arpa.2017-0478-RADOI Listing
June 2019
7 Reads

Leukodystrophy with disorders of sex development due to WT1 mutations.

J Neurol Sci 2018 07 13;390:94-98. Epub 2018 Apr 13.

Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.

Background: Hypomyelinating leukodystrophies represent an expanding group of neurogenetic disorders characterized primarily by central nervous system hypomyelination and variable neurological and non-neurological involvement. Hypomyelinating disorders have been rarely associated with gonadal dysfunction, being mainly represented by hypogonadotrophic hypogonadism in 4H syndrome. WT1 gene-associated disorders are classically associated with complex phenotypes including early carcinogenic risk for gonadoblastoma and Wilms' tumor, chronic renal failure, nephrotic syndrome and sex developmental disorders in intersex disorders and ambiguous genitalia. Read More

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http://dx.doi.org/10.1016/j.jns.2018.04.020DOI Listing
July 2018
7 Reads

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

J Endocr Soc 2018 May 13;2(5):471-475. Epub 2018 Apr 13.

Pediatric Hematology Oncology, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

Patients with Turner syndrome (TS) are known to be at risk for excess androgen production and virilization associated with gonadoblastoma and Y chromosome mosaicism, and excess androgens are a risk factor for the development of hepatocellular carcinoma. However, virilization and hepatocellular carcinoma have not been described in a patient with TS. A 10-year-old with nonmosaic 45,X TS presented with clitoromegaly, accelerated linear growth velocity, advanced bone age, and elevated testosterone levels as well as a second occurrence of hepatocellular carcinoma. Read More

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http://dx.doi.org/10.1210/js.2018-00017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932469PMC
May 2018
5 Reads

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

Abdom Radiol (NY) 2018 07;43(7):1515-1523

Department of Radiology, Osaka University Graduate School of Medicine, 2-2, Yamadaoka, Suita, Osaka, 565-0871, Japan.

We report the imaging findings of three ovarian dysgerminomas that coexisted with other germ cell tumors or gonadoblastomas, focusing on the distribution of tumor nests and vascular architecture, which might provide information about the pathogenesis of dysgerminomas. In a 14-year-old female with dysgerminoma and coexisting gonadoblastomas, contrast-enhanced magnetic resonance imaging (MRI) demonstrated a solid mass in the right ovary, which presented as hyperintense lobules on diffusion-weighted imaging separated by fibrovascular septa. Some small nodules were found to exist separately from the lobules (multiplicity) and to include pathological remnants of gonadoblastoma. Read More

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http://dx.doi.org/10.1007/s00261-018-1503-6DOI Listing
July 2018
48 Reads

A Case of Primary Amenorrhea with Swyer Syndrome.

J Hum Reprod Sci 2017 Oct-Dec;10(4):310-312

Department of Obstetrics and Gynaecology, G.R. Doshi and K.M. Mehta Institute of Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation Sciences, Ahmedabad, Gujarat, India.

Swyer syndrome with complete gonadal dysgenesis is associated with an absence of testicular differentiation in a phenotypic female with a 46, XY karyotype. A 14-year-old unmarried girl was referred with complaints of primary amenorrhea and nondevelopment of breast. Her built was normal. Read More

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http://www.jhrsonline.org/text.asp?2017/10/4/310/223275
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http://dx.doi.org/10.4103/jhrs.JHRS_128_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799937PMC
February 2018
30 Reads

WT1 Gene Mutation, p.R462W, in a 46,XY DSD Patient from Egypt with Gonadoblastoma and Review of the Literature.

Sex Dev 2017 11;11(5-6):280-283. Epub 2018 Jan 11.

Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.

WT1 gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms' tumor, nephropathy, gonadoblastoma, and other defects, e.g., cryptorchidism or hypospadias. Read More

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http://dx.doi.org/10.1159/000485394DOI Listing
October 2018
11 Reads

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

J Pediatr Urol 2018 04 23;14(2):154.e1-154.e6. Epub 2017 Dec 23.

Nationwide Children's Hospital, Division of Urology, THRIVE Program, Columbus, OH, USA.

Introduction: Patients with gonadal dysgenesis (GD) with a Y chromosome have an increased risk of gonadal neoplasm. Few data exist on the ability of imaging to detect malignancy in intra-abdominal gonads in these patients.

Objective: We aimed to determine the correlation between preoperative imaging findings and gonadal pathology in GD patients with Y chromosome material. Read More

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http://dx.doi.org/10.1016/j.jpurol.2017.11.009DOI Listing
April 2018
15 Reads

Gonadal dysgenesis is associated with worse outcomes in patients with ovarian nondysgerminomatous tumors: A report of the Children's Oncology Group AGCT 0132 study.

Pediatr Blood Cancer 2018 04 29;65(4). Epub 2017 Dec 29.

Dana-Farber Cancer Institute and Boston Children's Hospital, Boston, Massachusetts.

Purpose: In this report, we characterize the timing and behavior of malignant ovarian germ cell tumors (GCTs) in pediatric patients with dysgenetic gonads compared to those with normal gonadal development.

Patients And Methods: Patients from the Children's Oncology Group AGCT0132 with malignant ovarian GCTs were included. Within this population, we sought to identify patients with gonadoblastoma, streak ovaries, or other evidence of gonadal dysgenesis (GD). Read More

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http://dx.doi.org/10.1002/pbc.26913DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219870PMC
April 2018
68 Reads

Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome.

Sex Dev 2017 16;11(5-6):254-261. Epub 2017 Dec 16.

Department of Paediatric Endocrinology and Rheumatology, 2nd Chair of Paediatrics, Poznan University of Medical Sciences, Poznan, Poland.

The presence of a Y chromosome in patients with Turner syndrome (TS) is a risk factor for the development of gonadal tumor and/or virilization. With conventional cytogenetic analysis, some cells containing a Y chromosome can be missed. The aim of this study was to determine the presence and incidence of Y chromosome-derived material in TS patients using PCR and the markers SRY, DYZ1, DYZ3, DYS132, ZFY, and TSPY. Read More

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http://dx.doi.org/10.1159/000484880DOI Listing
October 2018
9 Reads

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.

Sex Dev 2017 2;11(5-6):262-268. Epub 2017 Dec 2.

Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.

Gonadoblastoma and malignant transformations thereof can occur in females with Turner syndrome (TS) and Y chromosomal material. However, in females with TS and no Y chromosomal material, this is rarely seen. We report a female with an apparent 45,X karyotype (in blood and tumor) who was diagnosed with a metastatic embryonal carcinoma. Read More

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http://dx.doi.org/10.1159/000484398DOI Listing
October 2018
41 Reads

Adolescent Female With Turner's Syndrome and 46,X,der(Y) del(Y)(p11.2)del(q11.2) Karyotype With Gonadoblastoma and Dysgerminoma.

Pediatr Dev Pathol 2017 Nov-Dec;20(6):506-510. Epub 2017 Feb 9.

1 Department of Obstetrics and Gynecology, Monmouth Medical Center, Long Branch, New Jersey.

Gonadal dysgenesis patients with Y chromosomal material are subject to increased risk for germ cell tumors. We report a case of an adolescent female presenting with Turner-like syndrome with primary amenorrhea and Tanner stage 1 breast development. Karyotype showed one X chromosome and a minute pericentromeric fragment of Y chromosome without any functional Y genes in all the cells, unlike a mosaic pattern, represented as 46,X,der(Y)del(Y)(p11. Read More

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http://dx.doi.org/10.1177/1093526617690291DOI Listing
May 2019
35 Reads

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

Int J Surg Pathol 2018 May 28;26(3):287-292. Epub 2017 Nov 28.

2 Alfaisal University, Riyadh, Kingdom of Saudi Arabia.

Gonadoblastoma is an uncommon ovarian tumor arising primarily in females with gonadal dysgenesis and a 46, XY karyotype. Germ cell tumors arising within and/or overgrowing a gonadoblastoma have been reported. We report a rare case of a malignant mixed germ cell tumor (yolk sac tumor and choriocarcinoma) arising in a gonadoblastoma of the left ovary in a 19-year-old female with a 46, XX karyotype. Read More

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http://journals.sagepub.com/doi/10.1177/1066896917744342
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http://dx.doi.org/10.1177/1066896917744342DOI Listing
May 2018
19 Reads