776 results match your criteria Gonadoblastoma


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

An Pediatr (Barc) 2019 Apr 8. 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
April 2019
2 Reads

[Atypical genital development and tumor risk].

Bull Cancer 2019 Mar 22. Epub 2019 Mar 22.

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
March 2019
4 Reads

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

Mol Biol Rep 2019 Mar 16. 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
March 2019
1 Read

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

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 Apr;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
10 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
1 Read

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
2 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
12 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 Jan 15:1093526618824469. 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 2019
15 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
3 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 2018 Sep 24. Epub 2018 Sep 24.

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
September 2018
4 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
20 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
15 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
27 Reads

Recently Described and Clinically Important Entities in Testis Tumors.

Arch Pathol Lab Med 2018 Jun 27. 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. This paper summarizes that talk. Read More

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http://dx.doi.org/10.5858/arpa.2017-0478-RADOI Listing
June 2018
5 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
1 Read

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
3 Reads

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

Abdom Radiol (NY) 2018 Jul;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
27 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
23 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
7 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
10 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
36 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
3 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
13 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
February 2017
23 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
15 Reads

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

J Pediatr Urol 2018 04 20;14(2):153.e1-153.e7. Epub 2017 Nov 20.

Division of Laboratory and Genomic Medicine, Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St Louis, MO, USA. Electronic address:

Background: Ambiguous genitalia refers to a form of differences of sex development (DSD) wherein the appearance of the external genitalia is atypical. This rare condition presents challenges in decision-making and clinical management. Review of historical data may reveal areas for clinical research to improve care for patients with ambiguous genitalia. Read More

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http://dx.doi.org/10.1016/j.jpurol.2017.09.027DOI Listing
April 2018
26 Reads

Unexpected diagnosis of stage IIA dysgerminoma in streak gonad in a patient with Swyer syndrome: a case report.

Gynecol Endocrinol 2018 Jun 31;34(6):464-466. Epub 2017 Oct 31.

a Department of Gynecologic Oncology , Osaka International Cancer Institute , Osaka , Japan.

Patients with Swyer syndrome, which is also known as 46,XY pure gonadal dysgenesis, are at an increased risk of gonadoblastoma and germ cell tumor. Prophylactic gonadectomy is recommended for these patients. We report a case of stage IIA dysgerminoma arising in a streak gonad in a patient with Swyer syndrome, which was not diagnosable preoperatively and intraoperatively. Read More

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http://dx.doi.org/10.1080/09513590.2017.1395844DOI Listing
June 2018
6 Reads

[Y chromosome in Turner syndrome].

Pediatr Endocrinol Diabetes Metab 2017 ;23(1):37-41

Department of Pediatric Endocrinology and Rheumatology, 2nd Chair of Pediatrics, Medical Faculty I, Poznan University of Medical Sciences, Poland.

Turner syndrome (TS) is an inherited genetic disorder caused by numerical and/or structural chromosome X aberrations occurring at a frequency of 1:1200-1:2500 live-born girls. The most common karyotype is X chromosome monosomy (45,X) (approximately 50-60% of cases). Approximately 5-6% of patients may have abnormal Y chromosome or mosaicism characterized by the coexistence of 45,X cell line with cell line in which all or part of chromosome Y is present. Read More

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http://dx.doi.org/10.18544/PEDM-23.01.0072DOI Listing
June 2018
9 Reads

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

Histopathology 2018 Mar 9;72(4):545-555. Epub 2017 Nov 9.

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

Classical gonadoblastoma occurs almost entirely in the dysgenetic gonads of an individual who has a disorder of sex development. Approximately 40% of such neoplasms are bilateral. Almost all gonadoblastomas occur in patients who have a Y chromosome or part thereof; testis-specific protein Y-encoded 1 (TSPY1) is the putative gene. Read More

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http://dx.doi.org/10.1111/his.13387DOI Listing
March 2018
4 Reads

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

J Clin Res Pediatr Endocrinol 2018 03 24;10(1):87-90. Epub 2017 Aug 24.

Mersin University Faculty of Medicine, Department of Radiology, Mersin, Turkey.

Patients with complete XY gonadal dysgenesis (GD) show a high predisposition to germ cell tumors (GCT). Patients with coexistence of GCT and GD have been reported previously. Here we present a 15-year-old girl with mixed GCT and GD who also developed an intra-abdominal synovial sarcoma one year after the treatment. Read More

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http://cms.galenos.com.tr/Uploads/Article_16755/JCRPE-10-87-
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http://dx.doi.org/10.4274/jcrpe.4905DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838380PMC
March 2018
44 Reads

Case Report: Use of Tumor and Germline Y Chromosomal Analysis to Guide Surgical Management in a 46, XX Female Presenting With Gonadoblastoma With Dysgerminoma.

Int J Gynecol Pathol 2017 Sep;36(5):466-470

Familial Breast & Ovarian Cancer Clinic (J.M.C., R.H.K.), Princess Margaret Cancer CentreDepartments of Molecular Genetics (J.M.C.)Laboratory Medicine and Pathobiology (LMP) (A.N., T.C.), Faculty of MedicineObstetrics and Gynecology (R.F.C., F.M.), Division of Reproductive SciencesMedicine (R.H.K.), Division of Medical Oncology and Hematology, University of TorontoDepartment of Pathology and Laboratory Medicine (A.N., T.C.)Lunenfeld-Tanenbaum Research Institute (R.F.C., F.M., T.C.), Mount Sinai Hospital, Toronto, ON, CanadaWilliam Beaumont School of Medicine (B.R.), Oakland University, RochesterDivision of Gynecologic Oncology (B.R.), Beaumont Health, Royal Oak, Michigan.

Gonadoblastomas are rare mixed gonadal tumors that are almost always found in individuals with 46, XY karyotype or some other form of Y chromosome mosaicism. It is extremely rare to diagnose gonadoblastoma in phenotypically normal 46, XX females. Herein, we present a 20-year-old 46, XX female diagnosed with gonadoblastoma and dysgerminoma. Read More

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http://dx.doi.org/10.1097/PGP.0000000000000349DOI Listing
September 2017
10 Reads

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

Chin Med J (Engl) 2017 08;130(15):1882-1883

Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China.

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http://dx.doi.org/10.4103/0366-6999.211548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5547844PMC
August 2017
14 Reads

Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome.

Anticancer Res 2017 07;37(7):3975-3979

Department of Pathology, Faculty of Medicine, Tokyo Women's Medical University, Tokyo, Japan.

Background: Frasier syndrome (FS) is characterized by gonadal dysgenesis and progressive nephropathy caused by mutation in the Wilm's tumor gene (WT1). We report a case of FS in which diagnosis was based on amenorrhea with nephropathy, and laparoscopically-removed streak gonad which revealed gonadoblastoma.

Case Report: At the age of 3 years, the patient developed nephrotic syndrome. Read More

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http://dx.doi.org/10.21873/anticanres.11782DOI Listing
July 2017
44 Reads

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

Horm Res Paediatr 2017 15;88(3-4):291-297. Epub 2017 Jun 15.

Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York, USA.

Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). Read More

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http://dx.doi.org/10.1159/000477240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832898PMC
June 2018
12 Reads

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.

Am J Surg Pathol 2017 Sep;41(9):1290-1297

*Departments of Pathology, University of Virginia, Charlottesville, VA †Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, MO.

We report a unique case of gonadal mixed germ cell tumor (GCT) composed of a predominantly spermatocytic tumor (ST)-like component and a minor component of germinoma arising in gonadoblastoma in a phenotypic woman with a 46, XX peripheral karotype. The patient was a 24-year-old woman (gravida 2, para 1) found to have a 7 cm pelvic mass during routine obstetric ultrasound examination at 20 weeks gestational age. She underwent a left salpingo-gonadectomy at gestational age 23 and 2/7 weeks. Read More

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http://Insights.ovid.com/crossref?an=00000478-201709000-0001
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http://dx.doi.org/10.1097/PAS.0000000000000888DOI Listing
September 2017
9 Reads

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

Am J Med Genet C Semin Med Genet 2017 06 25;175(2):304-314. Epub 2017 May 25.

Translational Medicine/Human Genetics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.

Differences of Sex Development (DSD) includes a wide spectrum of etiologies and phenotypes. A subset of individuals with DSDs are predisposed to gonadal germ cell tumor (GCT). In this setting, GCT risk varies widely, depending on the DSD molecular etiology and penetrance. Read More

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http://dx.doi.org/10.1002/ajmg.c.31562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538907PMC
June 2017
10 Reads

Swyer Syndrome With Gonadoblastoma: A Clinicoradiological Approach.

J Hum Reprod Sci 2017 Jan-Mar;10(1):65-68

Department of Obstetrics & Gynecology, Teerthanker Mahaveer Medical College & Research Centre, Teerthanker Mahaveer University, Moradabad, Uttar Pradesh, India.

Primary amenorrhea is a common diagnostic challenge in the gynecology department, wherein there are numerous causes that need to be approached in a systematic manner. However, when a case with a pelvic lump or a solid pelvic mass presents to a gynecologist or a radiologist, the approach becomes difficult to justify amenorrhea and pelvic mass as a single entity. We present the case of a 36-year-old female with the complaints of primary amenorrhea with a pelvic mass. Read More

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http://dx.doi.org/10.4103/jhrs.JHRS_132_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5405651PMC
May 2017
5 Reads

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.

Hum Pathol 2017 07 23;65:1-14. Epub 2017 Apr 23.

Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN 46202; Department of Urology, Indiana University School of Medicine, Indianapolis, IN 46202. Electronic address:

Sex cord-stromal tumors (SCSTs) are the second most frequent category of testicular neoplasms, accounting for approximately 2% to 5% of cases. Both genetic and epigenetic factors account for the differences in frequency and histologic composition between testicular and ovarian SCSTs. For example, large cell calcifying Sertoli cell tumor and intratubular large cell hyalinizing Sertoli cell neoplasia occur in the testis but have not been described in the ovary. Read More

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http://dx.doi.org/10.1016/j.humpath.2017.04.009DOI Listing
July 2017
18 Reads

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

J Pediatr Urol 2017 Oct 10;13(5):508.e1-508.e6. Epub 2017 Apr 10.

Division of Paediatric Surgery and Paediatric Urology, Department of Surgery, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.

Introduction: Gonadal dysgenesis is unique in disorders of sex development (DSD), in that it can be associated with 46,XX, 46,XY or mosaic 45,X/46,XY karyotypes. Gonadal dysgenesis can be partial or complete. Gonadal dysgenesis associated with the Y-chromosome has increased risk of gonadal germ cell neoplasms. Read More

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http://dx.doi.org/10.1016/j.jpurol.2017.03.021DOI Listing
October 2017
5 Reads

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

Horm Cancer 2017 06 27;8(3):166-173. Epub 2017 Mar 27.

Department of Pediatrics, Severance Children's Hospital, Endocrine Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 120-752, South Korea.

Current guidelines recommend that testing for Y chromosome material should be performed only in patients with Turner syndrome harboring a marker chromosome and exhibiting virilization in order to detect individuals who are at high risk of gonadoblastoma. However, cryptic Y chromosome material is suggested to be a risk factor for gonadoblastoma in patients with Turner syndrome. Here, we aimed to estimate the frequency of cryptic Y chromosome material in patients with Turner syndrome and determine whether Y chromosome material increased the risk for development of gonadoblastoma. Read More

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http://dx.doi.org/10.1007/s12672-017-0291-8DOI Listing
June 2017
10 Reads

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

Hum Mol Genet 2017 03;26(5):901-912

Division of Cell and Developmental Genetics, Department of Medicine, VA Medical Center.

The gonadoblastoma gene, testis-specific protein Y-encoded (TSPY), on the Y chromosome and its X-homologue, TSPX, are cell cycle regulators and function as a proto-oncogene and a tumor suppressor respectively in human oncogenesis. TSPY and TSPX competitively bind to the androgen receptor (AR) and AR variants, such as AR-V7, at their conserved SET/NAP domain, and exacerbate and repress the transactivation of the AR/AR-V7 target genes in ligand dependent and independent manners respectively. The inhibitory domain has been mapped to the carboxyl acidic domain of TSPX, truncation of which renders TSPX to be stimulatory while its transposition to the C-terminus of TSPY results in an inhibitory hybrid protein. Read More

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https://academic.oup.com/hmg/article/26/5/901/2972794
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http://dx.doi.org/10.1093/hmg/ddx005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075507PMC
March 2017
7 Reads

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

J Adolesc Young Adult Oncol 2017 Jun 13;6(2):270-276. Epub 2017 Jan 13.

Department of Gynecologic Oncology, Etlik Zubeyde Hanim Women's Health Teaching and Research Hospital , Ankara, Turkey .

Purpose: To validate the oncological safety of fertility preservation in malignant ovarian germ cell tumors (MOGCTs) and to define the significance of maximal cytoreduction in early stage MOGCTs.

Materials And Methods: Sixty-nine patients with stage I and II MOGCTs who underwent surgical treatment were included in the study. Fertility-sparing surgery is defined as conservative surgery and hysterectomy and contralateral salpingo-oophorectomy were defined as definitive surgery. Read More

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http://dx.doi.org/10.1089/jayao.2016.0086DOI Listing
June 2017
15 Reads
1 Citation

[Clinicopathologic analysis of gonadoblastoma].

Zhonghua Bing Li Xue Za Zhi 2016 Dec;45(12):873-874

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http://dx.doi.org/10.3760/cma.j.issn.0529-5807.2016.12.012DOI Listing
December 2016
2 Reads

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

BMC Pediatr 2016 11 29;16(1):195. Epub 2016 Nov 29.

Human Developmental Genetics, Institut Pasteur, Paris, France.

Background: Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis or action. The families of some patients with anorchia may include individuals with 46,XY gonadal dysgenesis. We therefore analysed a large series of patients with 46,XY DSD or anorchia for the occurrence in their family of one of these phenotypes and/or ovarian insufficiency and/or infertility and/or cryptorchidism. Read More

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http://dx.doi.org/10.1186/s12887-016-0737-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5129225PMC
November 2016
7 Reads

Laparoscopic approach for gonadectomy in pediatric patients with intersex disorders.

Transl Pediatr 2016 Oct;5(4):295-304

Department of Translational Medical Sciences, Federico II University of Naples, Naples, Italy.

The birth of a child with a disorder of sex development (DSD) prompts a long-term management strategy that involves a myriad of professionals working with the family. There has been progress in diagnosis, surgical techniques and in understanding psychosocial issues related to this condition. However, since these kinds of disorders are rare and have many anatomical variations, individual care is necessary, especially regarding surgical management. Read More

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http://dx.doi.org/10.21037/tp.2016.09.06DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5107383PMC
October 2016
10 Reads

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

Clin Endocrinol (Oxf) 2017 Apr 10;86(4):621-627. Epub 2016 Nov 10.

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

Objective: Phenotypic female disorders of sex development (DSD) patients with Y chromosome or Y-derived sequence have an increased risk of gonadal germ cell tumours (GCTs). The objective of the study was to evaluate tumour risk of DSD, summarize the clinical characteristics of patients with GCTs and propose management suggestions.

Methods: Medical records of 292 patients diagnosed DSD and undergoing bilateral gonadectomy at Peking Union Medical College Hospital from January 1996 to March 2016 were retrospectively reviewed. Read More

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http://dx.doi.org/10.1111/cen.13255DOI Listing
April 2017
13 Reads

No effect of testosterone on behavior in aged Wistar rats.

Aging (Albany NY) 2016 11;8(11):2848-2861

Institute of Molecular Biomedicine, Faculty of Medicine, Comenius University, 811 08 Bratislava, Slovakia.

In men, aging is accompanied by a gradual decline in androgen secretion. Studies suggest beneficial effects of endogenous and exogenous testosterone on affective behavior and cognitive functions. The aim of this study was to describe behavioral and cognitive sex differences and to analyze the effects of long-term androgen deficiency in aged male rats. Read More

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http://www.aging-us.com/article/101096
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http://dx.doi.org/10.18632/aging.101096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5191874PMC
November 2016
11 Reads