766 results match your criteria Gonadoblastoma
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
J Formos Med Assoc 2018 Jul 13. Epub 2018 Jul 13.
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
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
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
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
J Neurol Sci 2018 Jul 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
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
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
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
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
J Pediatr Urol 2018 Apr 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
Pediatr Blood Cancer 2018 Apr 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
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
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
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
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
J Pediatr Urol 2018 Apr 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
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
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
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
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
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
Chin Med J (Engl) 2017 08;130(15):1882-1883
Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China.
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
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
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
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
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
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
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
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
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
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
Zhonghua Bing Li Xue Za Zhi 2016 Dec;45(12):873-874
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
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
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
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
Histopathology 2017 Mar 23;70(4):513-521. Epub 2016 Dec 23.
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
The World Health Organization (WHO) released a new tumour classification for the genitourinary system in early 2016 after consensus by pathologists with expertise in these organs. It utilized the framework of the 2004 classification, and incorporated the most up-to-date information concerning these tumours. In testicular tumours, the majority of the changes occurred in the nomenclature and classification of germ cell tumours; however, several modifications were also made for non-germ cell tumours. Read More
J Clin Diagn Res 2016 Sep 1;10(9):TD10-TD12. Epub 2016 Sep 1.
Resident, Department of Radio-diagnosis, Dr. D. Y. Patil Medical College, Hospital and Research Centre , Pimpri, Pune, Maharashtra, India .
A 46 XY pure gonadal dysgenesis also known as Swyer syndrome. These patients are phenotypic females with normal female external genitalia and absent testicular tissue. The patients with swyer syndrome have streak gonads and increased risk of dysgerminoma and gonadoblastoma. Read More
Transl Androl Urol 2016 Oct;5(5):794-798
Department of Urology (Surgery), Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; ; Department of Urology (Surgery), Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Disorders of sex development (DSD) represent a spectrum of conditions in which chromosomal, gonadal, or anatomic sex are atypical and affect 1 in 4,500-5,000 live births. The diagnosis of DSD raises concerns of tumor risk and treatment as well as future fertility preservation. We review the current understanding of the types of gonadal tumors that arise in DSD patients as well as possible markers and treatment. Read More
Mod Pathol 2016 11 29;29(11):1399-1414. Epub 2016 Jul 29.
Service d'Anatomie Pathologique, Centre de Biologie et de Pathologie Est, Bron, France.
Disorders of sex development are defined as congenital conditions with discordance between the phenotype, the genotype, the karyotype, and the hormonal profile. The disorders of sex development consensus classification established in 2005 are mainly based on chromosomal and biological data. However, histological anomalies are not considered. Read More
J Minim Invasive Gynecol 2016 Nov - Dec;23(7):1025. Epub 2016 May 16.
Division of Gynecology, Icahn School of Medicine at Mount Sinai, New York, New York.
Study Objective: To demonstrate the skills necessary for complete resection of bilateral streak gonads in Turner syndrome.
Design: Video case presentation with narration highlighting the key techniques used. The video was deemed exempt from formal review by our institutional review board. Read More
Indian J Pathol Microbiol 2016 Oct-Dec;59(4):527-529
Department of Pathology, Shrimati Kashibai Navale Medical College and General Hospital, Pune, Maharashtra, India.
Gonadoblastomas (GBYs) are rare gonadal tumors almost always arising from a dysgenetic gonad with a Y chromosome. Very rarely, GBYs appear in otherwise normal women with a history of pregnancy. The typical histological appearance of GBY can be altered by extensive deposition of basement membrane material, calcification, or overgrowth by a malignant tumor. Read More
Clin Genet 2017 02 24;91(2):292-301. Epub 2016 Nov 24.
Department of Pathology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Development of a malignant germ cell tumor, i.e., germ cell cancer (GCC) in individuals with disorders of sex development (DSD) depends on a number of (epi-)genetic factors related to early gonadal- and germ cell development, possibly related to genetic susceptibility. Read More
Horm Res Paediatr 2017 10;87(2):130-135. Epub 2016 Sep 10.
Department of Paediatrics and Child Health, Cork University Hospital, Cork, Ireland.
Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,X,i(X)(q10). Mosaicism for a Y chromosome, 45,X/46,XY, has been well documented and is associated with increased risk of gonadoblastoma (GB). To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X/47,XY,+18 karyotype. Read More
J Laparoendosc Adv Surg Tech A 2016 Sep 28;26(9):730-3. Epub 2016 Jul 28.
Department of General and Pediatric Surgery, University Medical Center Ulm , Ulm, Germany .
Introduction: Disorder of sexual development (DSD) is a rare condition. The surgical treatment of these patients includes investigation of the internal genitalia, evaluation of the gonads, and if necessary gonadectomy. The prevention of germ cell tumors is the most important issue in the surgical treatment of this varied and special group of patients. Read More
Am J Surg Pathol 2016 10;40(10):1417-23
*Department of Pathology, Stanford University School of Medicine, Stanford, CA †Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN ‡The James Homer Wright Pathology Laboratory, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Dr Robert E. Scully, who recognized and defined gonadoblastoma (GB), used the term "dissecting gonadoblastoma" (DGB) to describe variants with either an infiltrative type or diffuse pattern instead of the usual small nested arrangement. These patterns have not been emphasized in the literature. Read More