A. Arefyeva, A. Volkova, A. Lisker, E. N. Ostroukhova, T. A. Kholudeeva
{"title":"克氏综合征1例报告","authors":"A. Arefyeva, A. Volkova, A. Lisker, E. N. Ostroukhova, T. A. Kholudeeva","doi":"10.15829/2713-0177-2023-9","DOIUrl":null,"url":null,"abstract":"Klinefelter syndrome (KS) is a genetic disease associated with the presence of an extra X-chromosome in the karyotype of men. The most common karyotype is 47XXY, however, other genetic variants are also possible, as well as mosaic forms.The clinical picture is most often represented by bilateral gynecomastia, decreased in the volume testicles and infertility (azoospermia). Laboratory revealed hypergonadotropic hypogonadism. Testosterone replacement therapy is used to ensure virilization and the proper quality of life. Assisted reproductive technologies with preliminary hormonal preparation are used to restore fertility.This article presents a clinical case of KS and considers options for realization of reproductive plans in the case of non-obstructive azoospermia.","PeriodicalId":274852,"journal":{"name":"FOCUS. Endocrinology","volume":"34 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Klinefelter syndrome: a case report\",\"authors\":\"A. Arefyeva, A. Volkova, A. Lisker, E. N. Ostroukhova, T. A. Kholudeeva\",\"doi\":\"10.15829/2713-0177-2023-9\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Klinefelter syndrome (KS) is a genetic disease associated with the presence of an extra X-chromosome in the karyotype of men. The most common karyotype is 47XXY, however, other genetic variants are also possible, as well as mosaic forms.The clinical picture is most often represented by bilateral gynecomastia, decreased in the volume testicles and infertility (azoospermia). Laboratory revealed hypergonadotropic hypogonadism. Testosterone replacement therapy is used to ensure virilization and the proper quality of life. Assisted reproductive technologies with preliminary hormonal preparation are used to restore fertility.This article presents a clinical case of KS and considers options for realization of reproductive plans in the case of non-obstructive azoospermia.\",\"PeriodicalId\":274852,\"journal\":{\"name\":\"FOCUS. Endocrinology\",\"volume\":\"34 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-05-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"FOCUS. Endocrinology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15829/2713-0177-2023-9\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"FOCUS. Endocrinology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15829/2713-0177-2023-9","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Klinefelter syndrome (KS) is a genetic disease associated with the presence of an extra X-chromosome in the karyotype of men. The most common karyotype is 47XXY, however, other genetic variants are also possible, as well as mosaic forms.The clinical picture is most often represented by bilateral gynecomastia, decreased in the volume testicles and infertility (azoospermia). Laboratory revealed hypergonadotropic hypogonadism. Testosterone replacement therapy is used to ensure virilization and the proper quality of life. Assisted reproductive technologies with preliminary hormonal preparation are used to restore fertility.This article presents a clinical case of KS and considers options for realization of reproductive plans in the case of non-obstructive azoospermia.
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