Klinefelter syndrome (KS) is often associated with various neoplasms, especially germ cell tumors. Mediastinum is the most favored site of extragonadal germ cell tumors with KS, which is somewhat different from those without KS. The retroperitoneal germ cell tumor in KS is very rare. A five-month-old boy with an abdominal mass was found to have a retroperitoneal tumor. After surgical removal, he was diagnosed to have mature cystic teratoma. Cytogenetic study of his peripheral lymphocytes revealed that his karyotype was consistent with KS. This case suggests that patients with KS might be at risk of having germ cell tumors in sites other than mediastinum. It also suggests that all cases with these tumors should be screened for the presence of karyotypic abnormalities, and it might help to assess the exact correlation between germ cell tumors and KS, and to treat them accordingly.
Case Report ; Human ; Infant ; Karyotyping ; Klinefelter's Syndrome/genetics ; Klinefelter's Syndrome/complications* ; Male ; Retroperitoneal Neoplasms/pathology ; Retroperitoneal Neoplasms/complications* ; Teratoma/pathology ; Teratoma/etiology*

Klinefelter's syndrome is one of the most common forms of primary hypogonadism and infertility in males. It is characterized by small and firm testes, gynecomastia, azoospermia, and an elevated gonadotropin level. The frequencies of diabetes mellitus, breast cancer, and germ cell neoplasia increases in Klinefelter's syndrome. We report upon a 35 year-old male patient with Graves' disease in association with Klinefelter's syndrome; as confirmed by chromosome analysis. The patient is being treated with antithyroid medication for Graves' disease and by testosterone replacement for Klinefelter's syndrome.
Adult ; Graves' Disease/*etiology/radionuclide imaging ; Human ; Hypogonadism/*etiology/genetics/pathology ; Klinefelter Syndrome/*complications/genetics/pathology ; Male

No abstract available.
Bone Marrow Cells/pathology ; Chromosomes, Human, X/*genetics ; Hematologic Neoplasms/*etiology/genetics ; Humans ; Immunophenotyping ; Karyotyping ; Klinefelter Syndrome/*complications/*genetics ; Male ; Middle Aged ; Mosaicism ; Tomography, X-Ray Computed

Biomarkers ; blood ; Child ; Chorionic Gonadotropin ; blood ; Follicle Stimulating Hormone ; blood ; Growth Disorders ; etiology ; Humans ; Klinefelter Syndrome ; complications ; diagnosis ; genetics ; Magnetic Resonance Imaging ; Male ; Mediastinal Neoplasms ; complications ; diagnosis ; surgery ; Puberty, Precocious ; diagnosis ; etiology ; Teratoma ; complications ; diagnosis ; surgery ; Testis ; pathology