Pub Date : 2010-11-01DOI: 10.1097/TEN.0B013E3181FCFEBA
A. Czyżyk, K. Lacka, M. Krawczyński, J. Andrzejewska, A. Wojda, J. Skołożdrzy, A. Latos-Bieleńska
{"title":"Analysis of Phenotype and Karyotype of Children Born From Mothers With 45,X/46,XX Mosaicism","authors":"A. Czyżyk, K. Lacka, M. Krawczyński, J. Andrzejewska, A. Wojda, J. Skołożdrzy, A. Latos-Bieleńska","doi":"10.1097/TEN.0B013E3181FCFEBA","DOIUrl":"https://doi.org/10.1097/TEN.0B013E3181FCFEBA","url":null,"abstract":"","PeriodicalId":50531,"journal":{"name":"Endocrinologist","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2010-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74344249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2010-11-01DOI: 10.1097/TEN.0B013E3181FC2D2A
M. Irwig, Collin J. OʼHara, S. Tabbara
{"title":"Low attenuation of the thyroid on computed tomography as a marker of thyroiditis in a woman with acquired immune deficiency syndrome","authors":"M. Irwig, Collin J. OʼHara, S. Tabbara","doi":"10.1097/TEN.0B013E3181FC2D2A","DOIUrl":"https://doi.org/10.1097/TEN.0B013E3181FC2D2A","url":null,"abstract":"","PeriodicalId":50531,"journal":{"name":"Endocrinologist","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2010-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79834883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2010-11-01DOI: 10.1097/TEN.0B013E3181FC364A
S. Srivatsa
Abstract: We report and discuss a case of a young woman with a massive goiter, which was attributed to a rare genetic disorder. We review the history and diagnostic tests including radiology, blood tests, and genetic results. Diagnostic tests revealed a large goiter, dilated vestibular aqueduct, mondini dysplasia, and a positive genetic test for SLC26A4 gene mutation. Although sporadic goiter and autoimmune thyroid disorders are common in the population, we suspected Pendred syndrome based on the presentation of massive goiter from dyshormonogenesis and hearing loss. The diagnosis of Pendred syndrome was confirmed by the genetic tests. The implication of the diagnosis is important for further genetic counseling.
{"title":"Goiter Caused by SLC26A4 Gene Mutation","authors":"S. Srivatsa","doi":"10.1097/TEN.0B013E3181FC364A","DOIUrl":"https://doi.org/10.1097/TEN.0B013E3181FC364A","url":null,"abstract":"Abstract: We report and discuss a case of a young woman with a massive goiter, which was attributed to a rare genetic disorder. We review the history and diagnostic tests including radiology, blood tests, and genetic results. Diagnostic tests revealed a large goiter, dilated vestibular aqueduct, mondini dysplasia, and a positive genetic test for SLC26A4 gene mutation. Although sporadic goiter and autoimmune thyroid disorders are common in the population, we suspected Pendred syndrome based on the presentation of massive goiter from dyshormonogenesis and hearing loss. The diagnosis of Pendred syndrome was confirmed by the genetic tests. The implication of the diagnosis is important for further genetic counseling.","PeriodicalId":50531,"journal":{"name":"Endocrinologist","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2010-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91174572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2010-11-01DOI: 10.1097/TEN.0B013E3181FD0409
D. Foth, G. Rahimi
{"title":"Treatment of Hirsutism in a Woman With Familial Partial Lipodystrophy of Dunnigan Type: A Case Report and Review of the Literature","authors":"D. Foth, G. Rahimi","doi":"10.1097/TEN.0B013E3181FD0409","DOIUrl":"https://doi.org/10.1097/TEN.0B013E3181FD0409","url":null,"abstract":"","PeriodicalId":50531,"journal":{"name":"Endocrinologist","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2010-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78224888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2010-11-01DOI: 10.1097/TEN.0B013E3181FC28AA
P. Rosário, D. Salles, Breno Bessa, S. Purisch
Objective: To evaluate the contribution of ultrasonography and frozen-section analysis (FS) in the prediction of malignancy in thyroid nodules with suspicious papillary thyroid carcinoma (PTC) cytology. Methods and Results: The sample consisted of 89 patients with thyroid nodules diagnosed as suspicious for PTC by fine-needle aspiration cytology. Histology revealed malignancy in 69 of 89 patients (77.5%). Malignancy was observed in 55 of 58 nodules (94.8%) with suspicious ultrasonographic findings versus 14 of 31 (45.1%) without suspicious characteristics (P Conclusion: Total thyroidectomy is indicated when a thyroid nodule with suspicious PTC cytology exhibits suspicious ultrasonographic characteristics or when FS reveals malignancy. Otherwise, lobectomy should be the initial procedure in cases of nonsuspicious ultrasonographic findings and absence of malignancy upon FS.
{"title":"Contribution of Ultrasonography and Frozen-section Analysis to the Prediction of Malignancy in Thyroid Nodules With Suspicious Papillary Carcinoma Cytology","authors":"P. Rosário, D. Salles, Breno Bessa, S. Purisch","doi":"10.1097/TEN.0B013E3181FC28AA","DOIUrl":"https://doi.org/10.1097/TEN.0B013E3181FC28AA","url":null,"abstract":"Objective: To evaluate the contribution of ultrasonography and frozen-section analysis (FS) in the prediction of malignancy in thyroid nodules with suspicious papillary thyroid carcinoma (PTC) cytology. Methods and Results: The sample consisted of 89 patients with thyroid nodules diagnosed as suspicious for PTC by fine-needle aspiration cytology. Histology revealed malignancy in 69 of 89 patients (77.5%). Malignancy was observed in 55 of 58 nodules (94.8%) with suspicious ultrasonographic findings versus 14 of 31 (45.1%) without suspicious characteristics (P Conclusion: Total thyroidectomy is indicated when a thyroid nodule with suspicious PTC cytology exhibits suspicious ultrasonographic characteristics or when FS reveals malignancy. Otherwise, lobectomy should be the initial procedure in cases of nonsuspicious ultrasonographic findings and absence of malignancy upon FS.","PeriodicalId":50531,"journal":{"name":"Endocrinologist","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2010-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85211303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2010-11-01DOI: 10.1097/TEN.0B013E3181FCBCDE
H. Padmanabhan
Abstract:An adrenal incidentaloma is an adrenal mass, generally 1 cm or more in diameter that is discovered serendipitously during a radiologic examination performed for indication other than evaluation for adrenal disease. With the increasing use of ultrasonography, computerized tomography, and mag
{"title":"Adrenal Incidentaloma Presenting as Carcinoma of Unknown Primary","authors":"H. Padmanabhan","doi":"10.1097/TEN.0B013E3181FCBCDE","DOIUrl":"https://doi.org/10.1097/TEN.0B013E3181FCBCDE","url":null,"abstract":"Abstract:An adrenal incidentaloma is an adrenal mass, generally 1 cm or more in diameter that is discovered serendipitously during a radiologic examination performed for indication other than evaluation for adrenal disease. With the increasing use of ultrasonography, computerized tomography, and mag","PeriodicalId":50531,"journal":{"name":"Endocrinologist","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2010-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80467065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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