Ignas Trainavičius, Darius Dasevičius, Birutė Burnytė, Robertas Kemežys, Gilvydas Verkauskas
{"title":"混合性腺发育不良患者的早期双侧性腺母细胞瘤（核型45，X/46，XY）：病例报告和文献复习。","authors":"Ignas Trainavičius, Darius Dasevičius, Birutė Burnytė, Robertas Kemežys, Gilvydas Verkauskas","doi":"10.15388/Amed.2022.29.2.5","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder of genital development and a higher risk of germ cell neoplasia, management of these patients is complex and requires multidisciplinary approach.</p><p><strong>Case: </strong>We present a 45,X/46,XY mixed gonadal dysgenesis patient diagnosed with gonadoblastoma in both gonads after bilateral gonadectomy at 1 year of age.</p><p><strong>Conclusions: </strong>Because of high risk for malignant transformation, gonadectomy of a streak-like gonad and biopsy with orchidopexy or gonadectomy of a dysgenetic testicle is recommended at an early age.</p>","PeriodicalId":34365,"journal":{"name":"Acta Medica Lituanica","volume":"29 2","pages":"194-200"},"PeriodicalIF":0.0000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9799003/pdf/","citationCount":"0","resultStr":"{\"title\":\"Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature.\",\"authors\":\"Ignas Trainavičius, Darius Dasevičius, Birutė Burnytė, Robertas Kemežys, Gilvydas Verkauskas\",\"doi\":\"10.15388/Amed.2022.29.2.5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder of genital development and a higher risk of germ cell neoplasia, management of these patients is complex and requires multidisciplinary approach.</p><p><strong>Case: </strong>We present a 45,X/46,XY mixed gonadal dysgenesis patient diagnosed with gonadoblastoma in both gonads after bilateral gonadectomy at 1 year of age.</p><p><strong>Conclusions: </strong>Because of high risk for malignant transformation, gonadectomy of a streak-like gonad and biopsy with orchidopexy or gonadectomy of a dysgenetic testicle is recommended at an early age.</p>\",\"PeriodicalId\":34365,\"journal\":{\"name\":\"Acta Medica Lituanica\",\"volume\":\"29 2\",\"pages\":\"194-200\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9799003/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta Medica Lituanica\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15388/Amed.2022.29.2.5\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/6/29 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta Medica Lituanica","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15388/Amed.2022.29.2.5","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/6/29 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature.
Background: Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder of genital development and a higher risk of germ cell neoplasia, management of these patients is complex and requires multidisciplinary approach.
Case: We present a 45,X/46,XY mixed gonadal dysgenesis patient diagnosed with gonadoblastoma in both gonads after bilateral gonadectomy at 1 year of age.
Conclusions: Because of high risk for malignant transformation, gonadectomy of a streak-like gonad and biopsy with orchidopexy or gonadectomy of a dysgenetic testicle is recommended at an early age.
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