Precocious puberty in Klinefelter syndrome: non-specific result of neurological deficit?
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Extremely high concentrations of human chorionic gonadotropin in the cerebrospinal fluid were found in a 5-year-old boy presenting sexual precocity and leg pain. An intramedullary spinal cord tumor was revealed by myelogram and metrizamide computerized tomography, and a biopsy specimen taken at laminectomy. Histologically, the tumor showed germinoma with syncytiotrophoblastic giant cells. The tumor remitted for 5 months after irradiation of 3500 rad and chemotherapy, but recurred in spite of adding 7500 rad and more aggressive chemotherapy. No relapse has been seen for 1 year after amputation of the spinal cord at the T7 level.
Two cases of hormonally active, metastasizing malignant mixed germ cell-sex cord-stromal tumors are described in otherwise normal prepubertal girls. Isosexual precocity was noted 5 months and 1 month before surgery. One child died 1 year after presentation, and the other was alive, with no apparent tumor, 1 year after diagnosis. These two cases represent the first recorded instance of a unique tumor in which metastases of several cell types were encountered.
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A 7 1/2 year-old boy developed pseudoprecocious puberty. The diagnosis of Leydig cell tumour was suggested by clinical and hormonal findings and greatly facilitated by ultrasonographic investigation of the testes. Surgical exploration was in keeping with the diagnosis and the tumour was removed. Orchidectomy was not necessary. It appears that ultrasonography may be very useful in diagnosing a testicular tumour. It facilitates surgical intervention since it permits localization of the lesion which is usually very small and limited to a small part of the testis, as in this case.
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A one-year-five-month-old boy with hepatoblastoma producing both human chorionic gonadotropin (hCG) and alpha-fetoprotein (AFP) is presented. Histologically, the primary tumor was mainly composed of well differentiated hepatoblastoma cells, with minor areas of poorly differentiated cells. Immunoperoxidase staining of the tumor for hCG and AFP showed that a few well differentiated, fetal type cells and multinucleated giant cells were positive for hCG, and AFP was never stained in the same cells. In areas where cells were poorly differentiated, positive reactions for either hCG or AFP were not observed. Electron microscopic studies revealed focal aggregates of cytoplasmic cored vesicles in some tumor cells, similar to secretory granules.
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