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Investigation of this arrested puberty established that he had Klinefelter syndrome (KS) mosaicism. He represents the first instance of KS mosaicism reported with a mediastinal germ cell tumor, a neoplasm commonly reported in males with a 47,XXY karyotype. We recommend that all males with KS and early sexual development or with \u201cnormal\u201d testicular growth be screened with measurement of germ cell tumor markers including \u03b2\u2010subunit of human chorionic gonadotropin and \u03b1\u2010fetoprotein. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320550112","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:53:19Z","timestamp":1118512399000},"page":"38-42","source":"Crossref","is-referenced-by-count":25,"title":["Mediastinal teratoma and precocious puberty in a boy with mosaic Klinefelter syndrome"],"prefix":"10.1002","volume":"55","author":[{"given":"Ajanta N.","family":"Derenoncourt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Castro\u2010Magana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth Lee","family":"Jones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-33-3-517"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mpo.2950150511"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0090-4295(88)90579-1"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.1985.1.1.61"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80021-7"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)54929-0"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80069-9"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)41492-3"},{"key":"e_1_2_1_10_1","first-page":"634","article-title":"Response of plasma LH and FSH to synthetic LHRH in children at various pubertal stages","volume":"130","author":"Dickerman A","year":"1976","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/S0022-5347(17)58965-X","article-title":"Klinefelter's syndrome and extragenital seminoma","volume":"116","author":"Doll DC","year":"1976","journal-title":"J Urol"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80393-5"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02469891"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1979.tb03083.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)40620-3"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.130.5.726"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb01947.x"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01959079"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-69-5-1087"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-1025486"},{"key":"e_1_2_1_21_1","first-page":"1067","article-title":"Mediastinal teratoma associated with Klinefelter's syndrome","volume":"110","author":"Lachman MF","year":"1986","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19870901)60:5<1053::AID-CNCR2820600520>3.0.CO;2-1"},{"key":"e_1_2_1_23_1","first-page":"407","volume-title":"Genetic Mechanisms of Sexual Development","author":"Leonard JM","year":"1979"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19810115)47:2<343::AID-CNCR2820470222>3.0.CO;2-5"},{"key":"e_1_2_1_25_1","first-page":"2897","article-title":"[Klinefelter's syndrome associated with primary mediastinal germinal cell tumor]","volume":"151","author":"Neilson HL","year":"1989","journal-title":"Ugeskrift Laeger"},{"key":"e_1_2_1_26_1","doi-asserted-by":"crossref","first-page":"1290","DOI":"10.1200\/JCO.1987.5.8.1290","article-title":"Klinefelter's syndrome associated with mediastinal germ cell neoplasms","volume":"3","author":"Nichols CR","year":"1987","journal-title":"J Clin Oncol"},{"issue":"4","key":"e_1_2_1_27_1","first-page":"209","article-title":"Sex chromosome abnormalities found among 34,910 newborn children: Results from a 13\u2010year incidence study in Arhus, Denmark","volume":"26","author":"Nielsen J","year":"1990","journal-title":"BD:OAS"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj1954.34.145"},{"key":"e_1_2_1_29_1","first-page":"185","article-title":"[Klinefelter's syndrome. 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