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[PMID]:28668903
[Au] Autor:Hashimoto K; Horibe YU; Ezaki J; Kanno T; Takahashi N; Akizawa Y; Matsui H; Yamamoto T; Shibata N
[Ad] Endereço:Department of Obstetrics and Gynecology, Faculty of Medicine, Tokyo Women's Medical University, Tokyo, Japan hashimoto.kazunori@twmu.ac.jp.
[Ti] Título:Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome.
[So] Source:Anticancer Res;37(7):3975-3979, 2017 07.
[Is] ISSN:1791-7530
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo: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. This later became steroid-resistant and, by the age of 16 years, had progressed to end-stage renal failure with peritoneal dialysis. At the age of 17 years, the patient presented primary amenorrhea and was referred to our department. Physical examination was consistent with Tanner 1 development and external genitalia were female phenotype. Speculum examination showed uterine cervix and uterine body and bilateral ovaries were not palpable on pelvic examination. Multi-sliced computed tomography of abdomen and pelvis revealed streaked structure along the bilateral external iliac artery at pelvic wall and hypoplastic uterus. Serum testing revealed primary hypogonadism pattern, elevated follicle-stimulating hormone and luteinizing hormone with low concentrations of estradiol and testosterone. The patient underwent genetic counseling with her parents. Chromosomal status was 46XY karyotype and DNA sequencing confirmed FS due to a heterozygous WT1 mutation (IVS9+5G>A). Elective laparoscopic bilateral salpingo-oophorectomy was performed to avoid increased risk for gonadoblastoma. Pathological examination revealed gonadoblastoma in the right gonad. CONCLUSION: Although a rare disease, the diagnosis of FS should be considered in the case of primary amenorrhea with nephropathy. Prophylatic gonadectomy is recommended due to the high risk of gonadoblastoma in the dysgenetic gonad.
[Mh] Termos MeSH primário: Síndrome de Frasier/cirurgia
Gonadoblastoma/diagnóstico por imagem
Neoplasias Ovarianas/diagnóstico por imagem
Proteínas WT1/genética
[Mh] Termos MeSH secundário: Adolescente
Feminino
Síndrome de Frasier/complicações
Síndrome de Frasier/genética
Disgenesia Gonadal 46 XY
Seres Humanos
Mutação
Ovariectomia
Salpingectomia
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (WT1 Proteins); 0 (WT1 protein, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170703
[St] Status:MEDLINE


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[PMID]:28614211
[Au] Autor:Gru AA; Williams ES; Cao D
[Ad] Endereço:*Departments of Pathology, University of Virginia, Charlottesville, VA †Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, MO.
[Ti] Título: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.
[So] Source:Am J Surg Pathol;41(9):1290-1297, 2017 Sep.
[Is] ISSN:1532-0979
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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. She recovered well and delivered a healthy baby at full term. The resected gonadal tumor measured 7.5 cm and microscopically was composed of 3 morphologically distinct components: gonadoblastoma (1%), germinoma (1%) and a ST-like component (98%). The ST-like component was composed of 3 populations of tumor cells: small cells, intermediate and large sized cells, similar to testicular ST. Scattered binucleated and multinucleated cells were present. Immunohistochemically the ST-like component was positive for pan-GCT markers SALL4 and LIN28 but with weaker staining than the germinoma. It was negative for OCT4 and TCL1. Only rare tumor cells were positive for SOX17. In contrast, the germinoma cells were diffusely and strongly positive for SALL4, LIN28, OCT4, SOX17, and TCL1. CD117 was positive in both the germinoma and ST-like component but with fewer tumor cells positive in the latter. Flurorescence in situ hybridization study demonstrated isochromosome 12p in the germinoma component but not in the gonadoblastoma and ST-like component. This patient did not receive further chemoradiation therapy after the surgery. She has been free of disease for 10 years and 1 month since her surgery. To our knowledge, this is the first case report of a ST-like GCT in a phenotypic female.
[Mh] Termos MeSH primário: Germinoma/patologia
Gonadoblastoma/patologia
Neoplasias Embrionárias de Células Germinativas/patologia
Neoplasias Primárias Múltiplas/genética
Neoplasias Ovarianas/patologia
Complicações Neoplásicas na Gravidez/patologia
[Mh] Termos MeSH secundário: Cromossomos Humanos X
Feminino
Germinoma/genética
Gonadoblastoma/genética
Seres Humanos
Cariotipagem
Neoplasias Embrionárias de Células Germinativas/genética
Neoplasias Ovarianas/genética
Fenótipo
Gravidez
Complicações Neoplásicas na Gravidez/genética
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170615
[St] Status:MEDLINE
[do] DOI:10.1097/PAS.0000000000000888


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[PMID]:28169398
[Au] Autor:Li Y; Zhang DJ; Qiu Y; Kido T; Lau YC
[Ad] Endereço:Division of Cell and Developmental Genetics, Department of Medicine, VA Medical Center.
[Ti] Título:The Y-located proto-oncogene TSPY exacerbates and its X-homologue TSPX inhibits transactivation functions of androgen receptor and its constitutively active variants.
[So] Source:Hum Mol Genet;26(5):901-912, 2017 Mar 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo: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. TSPY and TSPX co-localize with the endogenous AR, in the presence of ligand, on the promoters and differentially regulate the expression of the endogenous AR target genes in the androgen-responsive LNCaP prostate cancer cells. Transcriptome analysis shows that TSPY and TSPX expressions differentially affect significant numbers of canonical pathways, upstream regulators and cellular functions. Significantly, among the common ones, TSPY activates and TSPX inhibits numerous growth-related and oncogenic canonical pathways and cellular functions in the respective cell populations. Hence, TSPY and TSPX exert opposing effects on the transactivation functions of AR and AR-Vs important for various physiological and disease processes sensitive to male sex hormone actions, thereby not only affecting the pathogenesis of male-specific prostate cancer but also likely contributing to sex differences in the health and diseases of man.
[Mh] Termos MeSH primário: Proteínas de Ciclo Celular/genética
Proteínas Nucleares/genética
Neoplasias da Próstata/genética
Receptores Androgênicos/genética
Transcriptoma/genética
[Mh] Termos MeSH secundário: Proteínas de Ciclo Celular/biossíntese
Linhagem Celular Tumoral
Cromossomos Humanos X/genética
Cromossomos Humanos Y/genética
Regulação da Expressão Gênica no Desenvolvimento
Gonadoblastoma/genética
Seres Humanos
Masculino
Proteínas Nucleares/biossíntese
Neoplasias da Próstata/patologia
Domínios Proteicos/genética
Receptores Androgênicos/biossíntese
Testículo/crescimento & desenvolvimento
Testículo/patologia
Ativação Transcricional/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cell Cycle Proteins); 0 (Nuclear Proteins); 0 (Receptors, Androgen); 0 (SE20-4 protein, human); 0 (TSPY1 protein, human)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170515
[Lr] Data última revisão:
170515
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170208
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddx005


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[PMID]:28621097
[Au] Autor:Keskin M; Savas-Erdeve S; Kurnaz E; Çetinkaya S; Karaman A; Apaydin S; Aycan Z
[Ti] Título:Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis.
[So] Source:Turk J Pediatr;58(5):538-540, 2016.
[Is] ISSN:0041-4301
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of 46, XY sexual development disorder. The patient presented to our clinic with absence of breast development and lack of periods at the age of 17 years. Her history and familial history involved no relevant conditions. She had Tanner stage 1 thelarche, and Tanner stage 2 pubic hair development with no axillary hair development. External genital structure appearance was consistent with female phenotype and the patient had no palpable gonad. The patient diagnosed as 46, XY complete gonadal dysgenesis after evaluation of laboratory analyses, radiological methods and karyotype. The Sexual Orientation and Gender Identity Committee concluded that gonadectomy should be performed. Histopathologic analysis demonstrated gonadoblastoma. Gonad structures should be sought laparoscopically and once diagnosed, streak gonads should be removed prophylactically in patients with 46, XY complete gonadal dysgenesis.
[Mh] Termos MeSH primário: Disgenesia Gonadal 46 XY/complicações
Disgenesia Gonadal/complicações
Gonadoblastoma/complicações
[Mh] Termos MeSH secundário: Adolescente
Feminino
Seres Humanos
Cariótipo
Laparoscopia
Imagem por Ressonância Magnética
Neoplasias Ovarianas/cirurgia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170915
[Lr] Data última revisão:
170915
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170617
[St] Status:MEDLINE


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[PMID]:28547971
[Au] Autor:Milewicz T; Mrozinska S; Szczepanski W; Bialas M; Kialka M; Doroszewska K; Kabzinska-Turek M; Wojtys A; Ludwin A; Chmura L
[Ti] Título:Dysgerminoma and gonadoblastoma in the course of Swyer syndrome.
[So] Source:Pol J Pathol;67(4):411-414, 2016.
[Is] ISSN:1233-9687
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo:We present a case of a woman with primary amenorrhea. Ultrasound imaging showed a uterus of normal size but bands of connective tissues at the site of ovaries. A genetic test was done which revealed the XY karyotype. Swyer syndrome was diagnosed. The patient did not report for the follow-up visits. Three years later, the woman reported back because of increasing abdominal circumference. The patient underwent an operation. Radical hysterectomy was performed. Histopathological examination showed dysgerminoma and gonadoblastoma on the left gonad and dysgerminoma on the right one. This case report presents the natural history of Swyer syndrome.
[Mh] Termos MeSH primário: Disgerminoma/patologia
Disgenesia Gonadal 46 XY/complicações
Gonadoblastoma/patologia
Gônadas/patologia
[Mh] Termos MeSH secundário: Adolescente
Disgerminoma/genética
Feminino
Gonadoblastoma/genética
Seres Humanos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170726
[Lr] Data última revisão:
170726
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170527
[St] Status:MEDLINE


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[PMID]:27721289
[Au] Autor:Kulkarni MM; Sinai Khandeparkar SG; Joshi AR; Bhayekar PV
[Ad] Endereço:Department of Pathology, Shrimati Kashibai Navale Medical College and General Hospital, Pune, Maharashtra, India.
[Ti] Título:Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology.
[So] Source:Indian J Pathol Microbiol;59(4):527-529, 2016 Oct-Dec.
[Is] ISSN:0974-5130
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo: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. Less than 10 cases have been reported with normal 46XX karyotype. Only six cases of GBY have been described in pregnant women. We present a unique case of GBY with dysgerminoma in a genotypically and phenotypically normal woman with a history of normal pregnancy, absence of virilization, and characteristic immunohistomorphological features.
[Mh] Termos MeSH primário: Disgerminoma/diagnóstico
Disgerminoma/etiologia
Gonadoblastoma/complicações
Gonadoblastoma/diagnóstico
[Mh] Termos MeSH secundário: Fosfatase Alcalina/análise
Biomarcadores Tumorais/análise
Disgerminoma/patologia
Feminino
Proteínas Ligadas por GPI/análise
Gonadoblastoma/patologia
Histocitoquímica
Seres Humanos
Imuno-Histoquímica
Inibinas/análise
Isoenzimas/análise
Microscopia
Gravidez
Vimentina/análise
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (GPI-Linked Proteins); 0 (Isoenzymes); 0 (Vimentin); 57285-09-3 (Inhibins); EC 3.1.3.1 (Alkaline Phosphatase); EC 3.1.3.1 (alkaline phosphatase, placental)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170313
[Lr] Data última revisão:
170313
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161011
[St] Status:MEDLINE
[do] DOI:10.4103/0377-4929.191815


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[PMID]:27467856
[Au] Autor:Burgmeier C; Leriche C
[Ad] Endereço:Department of General and Pediatric Surgery, University Medical Center Ulm , Ulm, Germany .
[Ti] Título:Laparoscopy in the Surgical Treatment of Disorders of Sexual Development.
[So] Source:J Laparoendosc Adv Surg Tech A;26(9):730-3, 2016 Sep.
[Is] ISSN:1557-9034
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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. This study aimed to evaluate the role of laparoscopy in the surgical treatment of patients with DSD. MATERIALS AND METHODS: Over a 4-year-period, all patients presenting with DSD who underwent laparoscopic surgery at our institution were retrospectively reviewed. Operative procedure, age at the time of surgery, and histopathological results were evaluated. In addition, karyotypes and phenotypes were investigated. RESULTS: Altogether, 12 patients undergoing 14 laparoscopic procedures were included. Median age at the time of surgery was 6 years with a range from 9 months to 17 years. Explorative laparoscopy was performed in all patients. In seven children, laparoscopic gonadectomy was necessary. Histopathologic examination revealed germ cell tumors in four children. In two patients, a gonadoblastoma was identified; in two patients, a dysgerminoma was found. Inguinal exploration was performed in four patients and led to removal of gonadal remnants in one case and gonadopexy in three cases. In two patients presenting with repeated urinary tract infections, laparoscopic removal of an utriculus was performed. CONCLUSIONS: Laparoscopic gonadal biopsy, gonadopexy, and gonadectomy can be performed successfully, even in patients with germ cell tumors. To define guidelines for the surgical treatment of patients with DSD, further prospective and multicenter studies are necessary.
[Mh] Termos MeSH primário: Transtornos do Desenvolvimento Sexual/cirurgia
Disgerminoma/cirurgia
Gonadoblastoma/cirurgia
Laparoscopia/métodos
Neoplasias Embrionárias de Células Germinativas/cirurgia
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Técnicas de Diagnóstico por Cirurgia
Transtornos do Desenvolvimento Sexual/genética
Disgerminoma/diagnóstico
Disgerminoma/patologia
Feminino
Gonadoblastoma/diagnóstico
Gonadoblastoma/patologia
Seres Humanos
Lactente
Cariótipo
Masculino
Neoplasias Embrionárias de Células Germinativas/diagnóstico
Neoplasias Embrionárias de Células Germinativas/patologia
Orquiectomia
Ovariectomia
Fenótipo
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160729
[St] Status:MEDLINE
[do] DOI:10.1089/lap.2016.0017


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[PMID]:27454939
[Au] Autor:Kao CS; Idrees MT; Young RH; Ulbright TM
[Ad] Endereço:*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.
[Ti] Título:"Dissecting Gonadoblastoma" of Scully: A Morphologic Variant That Often Mimics Germinoma.
[So] Source:Am J Surg Pathol;40(10):1417-23, 2016 Oct.
[Is] ISSN:1532-0979
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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. To investigate the features of DGB we examined 50 GBs microscopically and performed immunohistochemistry (IHC) in some. DGB was found in 38 (76%) GBs and was represented by 3 patterns. The most frequent was solid/expansile (n=26), consisting of large coalescent nests of germ cells, often (92%) interrupted by fibrovascular septa, with usually minor numbers of sex cord cells. Less frequent were small anastomosing nests (n=24) and cord-like arrangements (n=22) of germ cells irregularly distributed in a prominent stroma and with mostly inconspicuous sex cord cells. Most DGBs (24) showed >1 pattern and demonstrated the characteristic globular deposits of basement membrane, although these were often subtle. The germ cells in all patterns varied from spermatogonium-like to seminoma-like; OCT3/4 was positive only in the latter (7/7). The sex cord cells were small with dense, oval or angulated nuclei, inconspicuous nucleoli, and positivity for inhibin (9/9, strong), FOXL2 (9/9, strong), SF1 (8/9, strong), SOX9 (9/9, weak and focal), WT1 (5/7, variable), and calretinin (3/7, variable). Granulomas were present in 84% of germinoma foci, 13% of DGB foci, and 8% of classic GB foci. Twenty two of 38 DGBs had associated germinoma; 3 also had embryonal carcinoma, yolk sac tumor, and choriocarcinoma, respectively. Follow-up of 2 cases lacking an invasive tumor showed that both patients were disease free at 13 and 4.8 years after bilateral gonadectomy. We conclude that DGB is commonly seen with classic GB and displays identical IHC features, supporting it as a morphologic variant of GB. It appears likely that cord-like DGB is the earliest phase in a GB developmental continuum that may proceed successively into anastomosing, nested (classic GB), and solid/expansile patterns. DGB often mimics germinoma because of the large size of the nests, pseudoinfiltrative pattern of some cases, and inconspicuous sex cord cells. The presence of sex cord cells (identification aided by IHC for sex cord markers), the heterogenous morphology of the germ cells, and globules of basement membrane are useful differential features. The lack of a granulomatous reaction also favors DGB over germinoma. Mistaking DGB for GB with invasive germinoma may result in more aggressive therapy than warranted. The likely relationship of DGB to the relatively recently described concept of so-called "undifferentiated gonadal tissue" is discussed herein.
[Mh] Termos MeSH primário: Germinoma/patologia
Gonadoblastoma/patologia
Neoplasias Ovarianas/patologia
Neoplasias Testiculares/patologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Biomarcadores Tumorais/metabolismo
Criança
Pré-Escolar
Diagnóstico Diferencial
Feminino
Seguimentos
Germinoma/diagnóstico
Germinoma/metabolismo
Gonadoblastoma/diagnóstico
Gonadoblastoma/metabolismo
Seres Humanos
Imuno-Histoquímica
Masculino
Neoplasias Ovarianas/diagnóstico
Neoplasias Ovarianas/metabolismo
Neoplasias Testiculares/diagnóstico
Neoplasias Testiculares/metabolismo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170705
[Lr] Data última revisão:
170705
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160726
[St] Status:MEDLINE
[do] DOI:10.1097/PAS.0000000000000704


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[PMID]:27411466
[Au] Autor:Zhu HL; Bao DM; Wang Y; Shen DH; Li Y; Cui H
[Ad] Endereço:Department of Obstetrics and Gynecology, Peking University People's Hospital, Beijing 100044, China.
[Ti] Título:Swyer's Syndrome with Mixed Ovarian Malignant Germ Cell Tumor and Ovarian Gonadoblastoma.
[So] Source:Chin Med J (Engl);129(14):1752-4, 2016 Jul 20.
[Is] ISSN:0366-6999
[Cp] País de publicação:China
[La] Idioma:eng
[Mh] Termos MeSH primário: Disgenesia Gonadal 46 XY/diagnóstico
Gonadoblastoma/diagnóstico
Neoplasias Embrionárias de Células Germinativas/diagnóstico
Neoplasias Ovarianas/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Quimioterapia Adjuvante
Feminino
Disgenesia Gonadal 46 XY/tratamento farmacológico
Disgenesia Gonadal 46 XY/metabolismo
Gonadoblastoma/tratamento farmacológico
Gonadoblastoma/metabolismo
Seres Humanos
Neoplasias Embrionárias de Células Germinativas/tratamento farmacológico
Neoplasias Embrionárias de Células Germinativas/metabolismo
Neoplasias Ovarianas/tratamento farmacológico
Neoplasias Ovarianas/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170313
[Lr] Data última revisão:
170313
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160715
[St] Status:MEDLINE
[do] DOI:10.4103/0366-6999.185864


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[PMID]:27087521
[Au] Autor:Simsek E; Binay Ç; Demiral M; Tokar B; Kabukçuoglu S; Üstün M
[Ad] Endereço:Osmangazi University Faculty of Medicine, Departments of Pediatric Endocrinology, Eskisehir, Turkey, Phone: +90505 496 23 02 E-mail: enversimsek06@hotmail.com.
[Ti] Título:Gonadoblastoma and Papillary Tubal Hyperplasia in Ovotesticular Disorder of Sexual Development.
[So] Source:J Clin Res Pediatr Endocrinol;8(3):351-5, 2016 Sep 01.
[Is] ISSN:1308-5735
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:Ovotesticular disorder of sexual development (DSD), formerly known as true hermaphroditism, is a rare form of DSD in which both testicular and ovarian tissues are present in the same individual either in a single gonad (ovotestis) or in opposite gonads with a testis and an ovary on each side. The diagnosis of ovotesticular DSD is based solely on the presence of ovarian and testicular tissue in the gonad and not on the characteristics of the internal and external genitalia, even if ambiguous. Herein, we report two patients with ovotesticular DSD-one presenting with ambiguous genitalia on the third day after birth and the other with short stature and primary amenorrhea in adolescence. Clinical and histopathological investigation revealed a sex-determining region on the Y chromosome (SRY)-positive 46,XX karyotype and bilateral ovotestes in case 1 and a 46,XY karyotype with hypergonadotropic hypogonadism and a streak gonad in one ovotestis with dysgerminoma, gonadoblastoma, and papillary tubal hyperplasia in the contralateral ovotestis in case 2. Laparoscopic examination and gonadal biopsy for histopathological diagnosis remain the cornerstones for a diagnosis of ovotesticular DSD. Moreover, SRY positivity in a 46,XX patient, a 46,XY karyotype, an intra-abdominal gonad, and the age of patient at the time of diagnosis are predictive risk factors for the development of gonadoblastoma and/or dysgerminoma in ovotesticular DSD.
[Mh] Termos MeSH primário: Transtornos do Desenvolvimento Sexual/diagnóstico
Tubas Uterinas/patologia
Gonadoblastoma/diagnóstico
Neoplasias Ovarianas/diagnóstico
Transtornos Ovotesticulares do Desenvolvimento Sexual/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Transtornos do Desenvolvimento Sexual/complicações
Transtornos do Desenvolvimento Sexual/genética
Feminino
Gonadoblastoma/complicações
Seres Humanos
Hiperplasia
Recém-Nascido
Cariótipo
Masculino
Neoplasias Ovarianas/complicações
Transtornos Ovotesticulares do Desenvolvimento Sexual/complicações
Transtornos Ovotesticulares do Desenvolvimento Sexual/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170418
[Lr] Data última revisão:
170418
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160419
[St] Status:MEDLINE
[do] DOI:10.4274/jcrpe.2705



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