Case reportExtragonadal germ cell tumors are often associated with Klinefelter syndrome☆
Introduction
Klinefelter syndrome (KS) is a well documented abnormality of sex differentiation occurring in 1 in 600 new born males. Patients with KS also have a higher risk of developing malignant mediastinal germ cell tumors [1], [2], and at least 8% of male patients with primary mediastinal tumors have KS [3]. The incidence of this syndrome among patients with mediastinal germ cell neoplasms is 50 times higher than in the general population. Because of the broad clinical spectrum of KS, some cases lack the classical phenotype, and the diagnosis is made until a complication is present [4]. We studied 4 cases of mediastinal tumors, and in 2 of them, a 47,XXY karyotype was recognized, whereas in the other 2, a normal XY karyotype was observed.
Section snippets
Case 1
A 16-year-old male patient was admitted with a history of progressive dyspnea, nausea, and vomiting 1 month before admission. Physical examination revealed respiratory distress that required mechanical ventilation. The chest x-ray showed an anterior mediastinal tumor expanding into the right hemithorax (Fig. 1A, B). The day after, he developed hemodynamic complications and had an irreversible cardiorespiratory arrest. Autopsy disclosed a large infiltrating tumor, involving the anterior and
Discussion
KS has been associated with several malignancies including extragonadal germ cell tumors mainly in the mediastinum. Nevertheless, some authors consider this association as an unusual finding [7], [8], [9], [10], [11], [12]. This report describes the molecular cytogenetic studies performed in 4 young males with mediastinal germ cell tumors, none was previously diagnosed as having KS. FISH analysis revealed a 47,XXY karyotype in cases 1 and 2 and a normal karyotype in patients 3 and 4. Although
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2014, Urologic Clinics of North AmericaCitation Excerpt :Regardless of testosterone levels, LH is typically increased as a result of maximal stimulation of Leydig cells that produce androgen inefficiently.62–65 The presence of an additional X chromosome results in not only spermatogenic and androgenic failure but also gynecomastia, expressive language difficulties, higher mortality from breast cancer and non-Hodgkin lymphoma (standardized incident ratios of 57.8 and 3.5, respectively), a decreased risk of prostate cancer, and a higher incidence of extragonadal germ cell tumors mandating karyotyping in men presenting with these tumors.38,65–68 Men with KS can present in a myriad of ways.
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This work was supported by DGAPA Grant number IN206902-3, Research Department of the Hospital General de Mexico, and CONACYT grant number 45208M.