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A case report of rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome and mediastinal germ cell tumor.
Genet Couns. 2014; 25(2):215-20.GC

Abstract

Klinefelter syndrome (KS) is a common sex chromosome disorder and is characterized by small, firm testes with hyalinization of the seminiferous tubules, elevated gonadotropins and azoospermia. Among karyotypic variants of KS, mosaicism 47,XXY/46,XX is extremely rare. We report here a case of an 18-year-old boy with a mosaic 47,XXY/46,XX karyotype of peripheral blood diagnosed as KS. The boy presented with anterior mediastinal mass which was confirmed as combined carvenous lymphangioma and mixed germ cell tumor by histologic examination of resected tissue. He had the male phenotype, however, azoospermia was incidentally detected on sperm banking analysis, performed prior to chemotherapy for mixed germ cell tumor. He had small and firm testes, mild gynecomastia, collectively tanner stage IV, mild hypergonadotropic hypogonadism and no evidence of true hermaphroditism. This report presents a rare case of mosaicism 47,XXY/46,XX karyotype in a phenotypic male with KS and mediastinal germ cell tumors. Based on what we experienced and review of the literature, cytogenetic analysis is recommended when physicians are confronted with a young patient with mediastinal germ cell tumor.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

25059022

Citation

Song, J S., et al. "A Case Report of Rare XXY/XX Mosaicism in a Phenotypic Male With Klinefelter Syndrome and Mediastinal Germ Cell Tumor." Genetic Counseling (Geneva, Switzerland), vol. 25, no. 2, 2014, pp. 215-20.
Song JS, Lee SH, Jin DK, et al. A case report of rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome and mediastinal germ cell tumor. Genet Couns. 2014;25(2):215-20.
Song, J. S., Lee, S. H., Jin, D. K., & Kim, S. H. (2014). A case report of rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome and mediastinal germ cell tumor. Genetic Counseling (Geneva, Switzerland), 25(2), 215-20.
Song JS, et al. A Case Report of Rare XXY/XX Mosaicism in a Phenotypic Male With Klinefelter Syndrome and Mediastinal Germ Cell Tumor. Genet Couns. 2014;25(2):215-20. PubMed PMID: 25059022.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case report of rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome and mediastinal germ cell tumor. AU - Song,J S, AU - Lee,S H, AU - Jin,D K, AU - Kim,S H, PY - 2014/7/26/entrez PY - 2014/7/26/pubmed PY - 2014/8/13/medline SP - 215 EP - 20 JF - Genetic counseling (Geneva, Switzerland) JO - Genet. Couns. VL - 25 IS - 2 N2 - Klinefelter syndrome (KS) is a common sex chromosome disorder and is characterized by small, firm testes with hyalinization of the seminiferous tubules, elevated gonadotropins and azoospermia. Among karyotypic variants of KS, mosaicism 47,XXY/46,XX is extremely rare. We report here a case of an 18-year-old boy with a mosaic 47,XXY/46,XX karyotype of peripheral blood diagnosed as KS. The boy presented with anterior mediastinal mass which was confirmed as combined carvenous lymphangioma and mixed germ cell tumor by histologic examination of resected tissue. He had the male phenotype, however, azoospermia was incidentally detected on sperm banking analysis, performed prior to chemotherapy for mixed germ cell tumor. He had small and firm testes, mild gynecomastia, collectively tanner stage IV, mild hypergonadotropic hypogonadism and no evidence of true hermaphroditism. This report presents a rare case of mosaicism 47,XXY/46,XX karyotype in a phenotypic male with KS and mediastinal germ cell tumors. Based on what we experienced and review of the literature, cytogenetic analysis is recommended when physicians are confronted with a young patient with mediastinal germ cell tumor. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/25059022/A_case_report_of_rare_XXY/XX_mosaicism_in_a_phenotypic_male_with_Klinefelter_syndrome_and_mediastinal_germ_cell_tumor_ L2 - http://www.diseaseinfosearch.org/result/7576 DB - PRIME DP - Unbound Medicine ER -