Derenoncourt A N, Castro-Magana M, Jones K L
Department of Pediatrics, University of California in San Diego, La Jolla, USA.
Am J Med Genet. 1995 Jan 2;55(1):38-42. doi: 10.1002/ajmg.1320550112.
We describe a boy who developed precocious puberty resulting from chorionic gonadotropin produced by a mediastinal germ cell tumor. Following tumor removal he began spontaneous precocious sexual development which was treated and then arrested spontaneously. 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 "normal" testicular growth be screened with measurement of germ cell tumor markers including beta-subunit of human chorionic gonadotropin and alpha-fetoprotein.
我们描述了一名男孩，他因纵隔生殖细胞瘤产生的绒毛膜促性腺激素而出现性早熟。肿瘤切除后，他开始出现自发性性早熟，接受治疗后性早熟自行停止。对这种停止的青春期进行调查发现他患有克氏综合征（KS）嵌合体。他是首例报道的患有KS嵌合体并伴有纵隔生殖细胞瘤的病例，纵隔生殖细胞瘤是一种常见于核型为47,XXY男性的肿瘤。我们建议，对所有患有KS且有早期性发育或睾丸“正常”生长的男性，应通过检测生殖细胞瘤标志物进行筛查，这些标志物包括人绒毛膜促性腺激素β亚基和甲胎蛋白。
