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[PMID]:27862157
[Au] Autor:Huang H; Wang C; Tian Q
[Ad] Endereço:Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
[Ti] Título:Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence.
[So] Source:Clin Endocrinol (Oxf);86(4):621-627, 2017 Apr.
[Is] ISSN:1365-2265
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo: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. Tumour histopathological types, risks and clinical characteristics were evaluated. RESULTS: The tumours in DSD included gonadoblastoma, seminoma, dysgerminoma, Sertoli cell tumour, yolk sac tumour and choriocarcinoma. The overall GCTs risk was 15·41% and 46, XY pure gonadal dysgenesis (46, XY PGD) carried the highest risk up to 23·33%, followed by complete androgen insensitivity syndrome (CAIS). The risk of mixed gonadal dysgenesis (GD) or 46, XY 17 alpha-hydroxylase/17, 20-lyase deficiency (46, XY 17 OHD) was <10%, and no tumour was found in five testis regression patients. The ages (years) of tumour diagnosed ranged from 11 to 29 [18 (15, 21) years]. The median age of androgen insensitivity syndrome (AIS) with tumours was comparatively late [19 (18, 24) years], while GCTs occurred during adolescence in 46, XY PGD [17 (15, 20) years] and mixed GD [15 (15, 17) years]. Sex hormone levels were generally unaffected by gonadal GCTs. The positive tumour marker rate before surgery was 58·82% (10/17). Elevated lactate dehydrogenase (LDH) was observed in six cases with dysgerminoma/seminoma. Remarkably elevated α-fetoprotein (AFP) or human chorionic gonadotropin (hCG) was seen in cases with yolk sac tumour or choriocarcinoma, respectively. Mild hyperandrogenism was observed in seven cases with GCTs. Fourteen of 17 pelvic masses found before operation was later proved malignant. CONCLUSION: Disorders of sex development patients with Y chromosome materials have a significantly increased risk of GCTs. Gonadoblastoma and dysgerminoma/seminoma are the most prevalent GCTs and 46, XY PGD carries the highest tumour presence and malignancy risk. AIS could postpone bilateral gonadectomy until or after adolescence, while others with streak gonads should undergo surgery as soon as diagnosis. Specific serum tumour markers could be used in predicting GCTs and monitoring. Optimal care and close follow-up are required.
[Mh] Termos MeSH primário: Cromossomos Humanos Y/genética
Transtornos do Desenvolvimento Sexual/genética
Neoplasias de Tecido Gonadal/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Síndrome de Resistência a Andrógenos
Sequência de Bases
Criança
Gerenciamento Clínico
Feminino
Disgenesia Gonadal 46 XY
Seres Humanos
Masculino
Neoplasias Embrionárias de Células Germinativas/etiologia
Fenótipo
Estudos Retrospectivos
Risco
Esteroide 17-alfa-Hidroxilase
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 1.14.14.19 (Steroid 17-alpha-Hydroxylase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161119
[St] Status:MEDLINE
[do] DOI:10.1111/cen.13255


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[PMID]:27723613
[Au] Autor:Zubizarreta P; Rossa A; Bailez M; Gil S; Rose A; Cacciavillano W
[Ad] Endereço:Servicio de Hematología y Oncología, Hospital de Pediatría SAMIC Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina. E-mail: pedro.zubizarreta@hotmail.com.
[Ti] Título:Malignant extra-cranial germ cell tumors in children and adolescents. Results following the guidelines of SFOP/SFCE 95 Protocol.
[Ti] Título:Tumores germinales malignos extra-cerebrales en niños y adolescentes. Resultados siguiendo las guías del Protocolo SFOP/SFCE 95..
[So] Source:Medicina (B Aires);76(5):265-272, 2016.
[Is] ISSN:0025-7680
[Cp] País de publicação:Argentina
[La] Idioma:eng
[Ab] Resumo:Between September 1995 and December 2010, 99 new consecutive assessable patients with extra-cranial MGCT were treated according to SFOP/SFCE TGM95 Protocol. A "watch and wait" strategy for completely resected stage I-II was observed in cases with preoperative high tumor markers levels. Metastatic disease or alpha fetoprotein levels > 15 000 ng/ml cases were treated by VIP chemotherapy (etoposide, ifosfamide and CDDP) 4-6-courses. All other cases were treated by VBP (vinblastine, bleomycin, and CDDP) 3-5 courses. Median age for the whole group was 11.1 (r: 0-17) years. Males: 49, females: 50. Stage I: 19 patients, stage II: 16, stage III: 31 and stage IV: 3. Gonadal disease occurred in 77 cases. Of 21 completely resected stage I-II patients with MGCT who did not receive chemotherapy after surgery, 6 presented disease progression and were successfully treated by chemotherapy and remained disease-free. There were no significant differences in outcome according to age, gender, initial site, staging, and histological variant or high levels of alpha-fetoprotein. Initial non-responsiveness to VIP chemotherapy was the only significant unfavorable prognostic feature. With a median follow-up of 64 (r: 5-204) months, at 10 years EFS and OS estimates for the whole group were 0.82 (SE = 0.05) and 0.90 (SE = 0.03) respectively. Therapy results of MGCT treated with the SFOP/SFCE 95 strategy were excellent. Initial non-response to front line chemotherapy was the only significant adverse prognostic feature. The "watch and wait" strategy for completely resected disease with initial positive markers proved to be safe with optimal outcome.
[Mh] Termos MeSH primário: Neoplasias Embrionárias de Células Germinativas/patologia
Neoplasias Embrionárias de Células Germinativas/terapia
Guias de Prática Clínica como Assunto
[Mh] Termos MeSH secundário: Adolescente
Distribuição por Idade
Criança
Pré-Escolar
Feminino
Seres Humanos
Lactente
Masculino
Neoplasias Embrionárias de Células Germinativas/mortalidade
Neoplasias de Tecido Gonadal/mortalidade
Neoplasias de Tecido Gonadal/patologia
Neoplasias de Tecido Gonadal/terapia
Neoplasias Ovarianas/mortalidade
Neoplasias Ovarianas/patologia
Neoplasias Ovarianas/terapia
Prognóstico
Estudos Prospectivos
Reprodutibilidade dos Testes
Medição de Risco
Fatores de Risco
Região Sacrococcígea
Distribuição por Sexo
Neoplasias Testiculares/mortalidade
Neoplasias Testiculares/patologia
Neoplasias Testiculares/terapia
Fatores de Tempo
Conduta Expectante/métodos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170731
[Lr] Data última revisão:
170731
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161011
[St] Status:MEDLINE


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[PMID]:26608236
[Au] Autor:Jiang JF; Xue W; Deng Y; Tian QJ; Sun AJ
[Ad] Endereço:a Department of Obstetrics and Gynecology , Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College , Beijing , China.
[Ti] Título:Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome material.
[So] Source:Gynecol Endocrinol;32(4):338-41, 2016.
[Is] ISSN:1473-0766
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The objective of this study was to examine risks for gonadal malignancy in a large sample of adult female patients with disorders of sex development (DSD). A retrospective-observational study was conducted from July 1992 to March 2015 and 202 women with DSD were enrolled. Tumor risks for different types of DSD were measured. We found that the patients' total gonadal-malignancy risk was 18.3% (37/202). Tumors included gonadoblastoma (n = 11), seminoma (n = 8), dysgerminoma (n = 5), choriocarcinoma (n = 1), sertoli cell tumors (n = 11), and leydig cell tumors (n = 1). The incidence of gonadal malignancy in patients with complete androgen insensitivity syndrome (CAIS), pure 46, XY gonadal dysgenesis, 45 X/46 XY mixed gonadal dysgenesis, 17α-hydroxylase/17, 20-lyase deficiency and partial androgen insensitivity syndrome (PAIS) were 27.1% (13/48), 22.4% (15/67), 10.9% (5/46), 10% (2/20) and 9.5% (2/21), respectively. Our results suggest that the incidence of gonadal malignancy increases with age for female patients with Y-chromosome material. Upon diagnoses, immediate, prophylactic gonadectomies should be considered for adult female patients with DSD containing Y chromosome material if they cannot receive regular follow-ups.
[Mh] Termos MeSH primário: Transtornos 46, XY do Desenvolvimento Sexual/complicações
Neoplasias de Tecido Gonadal/etiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Feminino
Seres Humanos
Neoplasias de Tecido Gonadal/cirurgia
Estudos Retrospectivos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170111
[Lr] Data última revisão:
170111
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151127
[St] Status:MEDLINE
[do] DOI:10.3109/09513590.2015.1116509


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[PMID]:25869398
[Au] Autor:Marino FE; Risbridger G; Gold E
[Ad] Endereço:Department of Anatomy, University of Otago, Dunedin, New Zealand. Electronic address: francescoelia.marino@otagoanatomy.com.
[Ti] Título:Activin-ßC modulates gonadal, but not adrenal tumorigenesis in the inhibin deficient mice.
[So] Source:Mol Cell Endocrinol;409:41-50, 2015 Jul 05.
[Is] ISSN:1872-8057
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:Activins and inhibins are involved in the regulation of several biological processes, including reproduction, development and fertility. Deregulation of the inhibin/activin signaling pathway has been implicated in the progression of reproductive and adrenal cancers. Deletion of the inhibin α-subunit results in up-regulation of the circulating levels of activins and this leads to the development of sex-cord stromal tumors followed by a cancer associated-cachexia in mice. When gonadectomy is performed, development of adrenocortical carcinomas is observed. We previously showed that overexpression of activin-ßC modulates the development of sex-cord stromal tumors and reduces cancer-cachexia in the inhibin-deficient mice by antagonizing the activin signaling pathway. The adrenal cortex and gonads share in common a large subset of genes, consistent with their common embryonic lineage. Additionally, it has been shown that adrenocortical carcinomas adopt an altered cellular identity resembling the ovary. Therefore, a study to assess the impact of overexpression of activin-ßC on the onset of adrenocortical carcinoma in gonadectomized inhibin-deficient mice was warranted. Within the current study we evaluated markers of apoptosis, proliferation, tumor burden, survival analysis and serum levels of activin-A in gonadectomized mice versus sham operated controls. Results showed that overexpression of activin-ßC modulated the development of reproductive tumors but had no effect on adrenal tumorigenesis. Our data reinforces the importance of activin-ßC in reproductive biology and suggest that activin-ßC is a tumor modulator with gonadal specificity.
[Mh] Termos MeSH primário: Neoplasias das Glândulas Suprarrenais/patologia
Subunidades beta de Inibinas/deficiência
Subunidades beta de Inibinas/metabolismo
Neoplasias de Tecido Gonadal/patologia
[Mh] Termos MeSH secundário: Neoplasias das Glândulas Suprarrenais/metabolismo
Animais
Feminino
Gônadas/cirurgia
Masculino
Camundongos
Camundongos Knockout
Neoplasias de Tecido Gonadal/metabolismo
Análise de Sobrevida
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Inhbc protein, mouse); 0 (inhibin beta A subunit); 93443-12-0 (Inhibin-beta Subunits)
[Em] Mês de entrada:1602
[Cu] Atualização por classe:150508
[Lr] Data última revisão:
150508
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150415
[St] Status:MEDLINE


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[PMID]:25354046
[Au] Autor:Tadokoro-Cuccaro R; Hughes IA
[Ad] Endereço:Department of Paediatrics, Addenbrooke's Hospital, University of Cambridge, Cambridge, UK.
[Ti] Título:Androgen insensitivity syndrome.
[So] Source:Curr Opin Endocrinol Diabetes Obes;21(6):499-503, 2014 Dec.
[Is] ISSN:1752-2978
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:PURPOSE OF REVIEW: Androgen insensitivity syndrome (AIS) can present with a wide range of phenotypes, and its management requires a multidisciplinary approach from diagnosis in infancy to adulthood. This review provides an update on some clinical and genetic aspects in AIS. Additional outcome data on surgical and psychosexual findings are presented, together with a discussion on the risk of development of gonadal tumours in AIS. RECENT FINDINGS: This review covers clinical features of AIS, including recent trends in sex of rearing, aspects of androgen receptor gene mutations and longer term outcomes in both complete and partial forms of AIS. SUMMARY: More follow-up studies are needed to optimize management in AIS, especially in the partial form. Predicting the risk of gonadal tumours is key to determining the timing of gonadectomy or whether to retain the gonads in the long term.
[Mh] Termos MeSH primário: Síndrome de Resistência a Andrógenos/diagnóstico
Gônadas/patologia
Neoplasias Embrionárias de Células Germinativas/prevenção & controle
Neoplasias de Tecido Gonadal/prevenção & controle
Receptores Androgênicos/genética
[Mh] Termos MeSH secundário: Síndrome de Resistência a Andrógenos/genética
Síndrome de Resistência a Andrógenos/patologia
Aconselhamento Genético
Seres Humanos
Masculino
Neoplasias Embrionárias de Células Germinativas/genética
Neoplasias Embrionárias de Células Germinativas/patologia
Neoplasias de Tecido Gonadal/genética
Neoplasias de Tecido Gonadal/patologia
Fenótipo
Prognóstico
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
0 (Receptors, Androgen)
[Em] Mês de entrada:1506
[Cu] Atualização por classe:141030
[Lr] Data última revisão:
141030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141030
[St] Status:MEDLINE
[do] DOI:10.1097/MED.0000000000000107


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[PMID]:25319984
[Au] Autor:Kao CS; Ulbright TM
[Ad] Endereço:From the Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis.
[Ti] Título:Myoid gonadal stromal tumor: a clinicopathologic study of three cases of a distinctive testicular tumor.
[So] Source:Am J Clin Pathol;142(5):675-82, 2014 Nov.
[Is] ISSN:1943-7722
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: To report three new cases of testicular myoid gonadal stromal tumor to better characterize its features. METHODS: The clinicopathologic findings (including follow-up) were evaluated and a review of the literature was performed. RESULTS: The patients were 38, 43, and 59 years old, and tumor sizes were 1.2, 1.3, and 3.2 cm. All were unilateral, well circumscribed, adjacent to the rete testis, and composed exclusively of spindled cells with elongated nuclei and occasional nuclear grooves arranged in fascicles with admixed variably ectatic blood vessels. Nucleoli were inconspicuous, and the cytoplasm was scant, ill-defined, and pale/lightly eosinophilic. No sex cord component was present. Mitotic figures ranged from zero to five per 10 high-power fields. Significant atypia, lymphovascular invasion, and necrosis were absent. All were consistently positive for smooth muscle actin, S100 protein, FOXL2, and steroidogenic factor 1 but negative for h-caldesmon, calretinin, and SOX9. Inhibin and calponin were focally positive. All patients were alive and well at 5, 31, and 58 months postorchiectomy. Combining our cases with those previously reported (n = 6) shows that this neoplasm occurs mostly in younger men (mean, 37 years), and all follow-up thus far (mean, 25 months) has been benign. CONCLUSIONS: Myoid gonadal stromal tumors are small (<4 cm) indolent testicular tumors distinctly different from other sex cord-stromal tumors and are adequately managed by orchiectomy.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/metabolismo
Células Estromais/patologia
Neoplasias Testiculares/metabolismo
Neoplasias Testiculares/patologia
Testículo/patologia
[Mh] Termos MeSH secundário: Adulto
Diagnóstico Diferencial
Seres Humanos
Imuno-Histoquímica
Masculino
Meia-Idade
Neoplasias de Tecido Gonadal/metabolismo
Neoplasias de Tecido Gonadal/patologia
Neoplasias de Tecido Gonadal/terapia
Neoplasias Testiculares/terapia
Testículo/metabolismo
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor)
[Em] Mês de entrada:1412
[Cu] Atualização por classe:151119
[Lr] Data última revisão:
151119
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:141017
[St] Status:MEDLINE
[do] DOI:10.1309/AJCPGSCD1DGNZ0QO


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[PMID]:23787160
[Au] Autor:Marino FE; Risbridger G; Gold E
[Ad] Endereço:Department of Anatomy, University of Otago, Dunedin, New Zealand. Electronic address: marfr063@student.otago.ac.nz.
[Ti] Título:The therapeutic potential of blocking the activin signalling pathway.
[So] Source:Cytokine Growth Factor Rev;24(5):477-84, 2013 Oct.
[Is] ISSN:1879-0305
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Members of the transforming growth factor ß (TGF-ß) family regulate fundamental physiological process, such as cell growth, differentiation and apoptosis. As a result, defects in this pathway have been linked to uncontrolled proliferation and cancer progression. Here we explore the signal transduction mechanism of TGF-ß focusing on therapeutic intervention in human diseases. Like TGF-ß, another member of the TGF-ß superfamily, activin has been proven to play an important role in maintenance of tissue homeostasis and dysregulation leads to disease. Several studies showed elevated levels of activin are responsible for the development of gonadal tumours and a cachexia-like weight loss syndrome. Discussing the recent advances in approaches developed to antagonise the activin pathway and the encouraging results obtained in animal models, this review presents a therapeutic rationale for targeting the activin pathway in conditions such as cachexia, neuromuscular and/or musculoskeletal disorders.
[Mh] Termos MeSH primário: Ativinas/antagonistas & inibidores
Antineoplásicos/uso terapêutico
Caquexia/tratamento farmacológico
Doenças Musculoesqueléticas/tratamento farmacológico
Proteínas de Neoplasias/antagonistas & inibidores
Neoplasias de Tecido Gonadal/tratamento farmacológico
Doenças Neuromusculares/tratamento farmacológico
Transdução de Sinais/efeitos dos fármacos
[Mh] Termos MeSH secundário: Ativinas/genética
Ativinas/metabolismo
Animais
Caquexia/genética
Caquexia/metabolismo
Proliferação Celular/efeitos dos fármacos
Seres Humanos
Doenças Musculoesqueléticas/genética
Doenças Musculoesqueléticas/metabolismo
Proteínas de Neoplasias/genética
Proteínas de Neoplasias/metabolismo
Neoplasias de Tecido Gonadal/genética
Neoplasias de Tecido Gonadal/metabolismo
Doenças Neuromusculares/genética
Doenças Neuromusculares/metabolismo
Transdução de Sinais/genética
Fator de Crescimento Transformador beta/genética
Fator de Crescimento Transformador beta/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antineoplastic Agents); 0 (Neoplasm Proteins); 0 (Transforming Growth Factor beta); 104625-48-1 (Activins)
[Em] Mês de entrada:1404
[Cu] Atualização por classe:131004
[Lr] Data última revisão:
131004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130622
[St] Status:MEDLINE


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[PMID]:23396295
[Au] Autor:Palma I; Garibay N; Pena-Yolanda R; Contreras A; Raya A; Dominguez C; Romero M; Aristi G; Queipo G
[Ad] Endereço:Molecular and Cellular Morphology Laboratory, Escuela Superior de Medicina, Instituto Politécnico Nacional, Mexico City, Mexico.
[Ti] Título:Utility of OCT3/4, TSPY and ß-catenin as biological markers for gonadoblastoma formation and malignant germ cell tumor development in dysgenetic gonads.
[So] Source:Dis Markers;34(6):419-24, 2013.
[Is] ISSN:1875-8630
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Gonadoblastoma (GB) is regarded as an in situ form of germ cell tumor in dysgenetic gonads, and 30% of patients with GB develop a dysgerminoma/seminoma tumor. OBJECTIVE: Determine whether OCT3/4 and ß-catenin are expressed in dysgenetic gonads before GB development and whether TSPY participates in the OCT3/4-ß-catenin pathways in the malignant invasive behavior. METHODS: dysgenetic gonads of Disorders of sex differentiation (DSD) patients with mixed gonadal dysgenesis were analyzed by immunohistochemistry and immunofluorescence for comparison with GB and dysgerminoma/seminoma. RESULTS: Our results suggest that the development of GB is secondary to the interaction of OCT3/4 and TSPY, that ß-catenin does not participate in this process. CONCLUSIONS: The use of this biological markers detects the potential high risk gonads.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/análise
Proteínas de Ciclo Celular/análise
Disgenesia Gonadal/diagnóstico
Gonadoblastoma/diagnóstico
Neoplasias de Tecido Gonadal/diagnóstico
Fator 3 de Transcrição de Octâmero/análise
beta Catenina/análise
[Mh] Termos MeSH secundário: Estudos de Casos e Controles
Criança
Disgerminoma/diagnóstico
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (CTNNB1 protein, human); 0 (Cell Cycle Proteins); 0 (Octamer Transcription Factor-3); 0 (POU5F1 protein, human); 0 (TSPY1 protein, human); 0 (beta Catenin)
[Em] Mês de entrada:1310
[Cu] Atualização por classe:151119
[Lr] Data última revisão:
151119
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130212
[St] Status:MEDLINE
[do] DOI:10.3233/DMA-130972


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[PMID]:22876554
[Au] Autor:Lin MH; Shamszadeh M; Pitukcheewanont P
[Ad] Endereço:Children's Hospital Los Angeles, The Keck School of Medicine of University of Southern California, Los Angeles, 90027, USA.
[Ti] Título:Sertoli cell tumor and intratubular germ cell neoplasia located in separate gonads in an adolescent patient with complete androgen insensitivity: a case report and review of literature.
[So] Source:J Pediatr Endocrinol Metab;25(5-6):547-51, 2012.
[Is] ISSN:0334-018X
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Complete androgen insensitivity syndrome (AIS) is an X-linked disorder of sex development. Surgical management entails timely gonadectomy given the risk of malignant transformation. Our patient presented at age 15 years with primary amenorrhea. Initial laboratory testing showed elevated testosterone, luteinizing hormone, anti-Müllerian hormone levels, and 46,XY karyotype. Imaging studies showed no uterus, ovaries, and identified two candidate gonads. She underwent bilateral gonadectomy. Pathology reports revealed Sertoli cell and intratubular germ cell tumors located in separate gonads. Our case is the first report of the youngest patient with AIS with bilateral gonadal tumors derived from different histological origins. We also review literature for reports of AIS patients with gonadal tumors. Currently, there is no consensus for the timing of gonadectomy in AIS patients. However, given the varying potential for malignant transformation of gonads in AIS patients with different phenotypes, development of a standardized treatment guideline is indicated.
[Mh] Termos MeSH primário: Síndrome de Resistência a Andrógenos/patologia
Disgenesia Gonadal 46 XY/patologia
Neoplasias Embrionárias de Células Germinativas/patologia
Neoplasias de Tecido Gonadal/patologia
Segunda Neoplasia Primária/patologia
Tumor de Células de Sertoli/patologia
[Mh] Termos MeSH secundário: Adolescente
Síndrome de Resistência a Andrógenos/genética
Feminino
Disgenesia Gonadal 46 XY/genética
Seres Humanos
Masculino
Neoplasias Embrionárias de Células Germinativas/cirurgia
Neoplasias de Tecido Gonadal/cirurgia
Segunda Neoplasia Primária/cirurgia
Tumor de Células de Sertoli/cirurgia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1209
[Cu] Atualização por classe:120810
[Lr] Data última revisão:
120810
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:120811
[St] Status:MEDLINE


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[PMID]:22320869
[Au] Autor:Stang A; Trabert B; Wentzensen N; Cook MB; Rusner C; Oosterhuis JW; McGlynn KA
[Ad] Endereço:Institut für Klinische Epidemiologie, Medizinische Fakultät, Martin-Luther-Universität Halle-Wittenberg, Halle, Germany. andreas.stang@medizin.uni-halle.de
[Ti] Título:Gonadal and extragonadal germ cell tumours in the United States, 1973-2007.
[So] Source:Int J Androl;35(4):616-25, 2012 Aug.
[Is] ISSN:1365-2605
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Germ cell tumours (GCTs) most often arise in the gonads, but some develop extragonadally. The aim of this study was to examine gender- and race-specific trends in incidence and survival of gonadal (GGCTs) and extragonadal GCTs (EGCTs) in the US from 1973 to 2007. We also examined the topographical distribution of EGCTs by race and gender. We estimated age-specific and age-standardized incidence rates and 5-year relative survival rates (RSR) of GCTs using the Surveillance, Epidemiology and End Results (SEER) Program (SEER nine registries). GCTs and their topographical sites were identified using ICD-O morphology and topography codes. Of 21,170 GCTs among males, 5.7% were extragonadal (Whites 5.5%; Blacks 16.3%). Of 2093 GCTs among females, 39.3% were extragonadal (Whites, 36.9%; Blacks 51.0%). The incidence of GGCT was much higher among White (56.3/1,000,000) than Black males (10.0/1,000,000), while there was no difference in incidence between White and Black females (3.2/1,000,000). The rates of EGCT among men and women of both races were similar (range:1.9-3.4/1,000,000). The most frequent extragonadal sites were mediastinum among males and placenta among females. The 5-year RSR of testicular GCT was higher among Whites (97%) than Blacks (90%), as was the 5-year RSR of ovarian GCT (Whites, 92%; Blacks 85%). In general, the 5-year RSRs of EGCTs were lower than the 5-year RSRs of GGCTs. The different incidence trends of GGCTs and EGCTs and distinct age-specific incidence patterns by anatomical site of EGCTs suggest that GGCTs and EGCTs may have different aetiologies.
[Mh] Termos MeSH primário: Neoplasias Embrionárias de Células Germinativas/epidemiologia
Neoplasias Embrionárias de Células Germinativas/mortalidade
Neoplasias de Tecido Gonadal/epidemiologia
Neoplasias de Tecido Gonadal/mortalidade
[Mh] Termos MeSH secundário: Adulto
Fatores Etários
Grupos de Populações Continentais
Feminino
Geografia/tendências
Seres Humanos
Incidência
Masculino
Sistema de Registros
Programa de SEER/estatística & dados numéricos
Fatores Sexuais
Sobrevida
Estados Unidos/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., INTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1407
[Cu] Atualização por classe:161025
[Lr] Data última revisão:
161025
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:120211
[St] Status:MEDLINE
[do] DOI:10.1111/j.1365-2605.2011.01245.x



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