Abstract
Klinefelter syndrome was discovered in 3 boys with precocious puberty and small testes (20×10 mm) in whom adrenal function was normal, thus excluding the diagnosis of adrenal hyperplasia or secreting tumor. In 2 of these patients, aged 7 and 12 years, Leydig-cell secretion (plasma testosterone 9 and 5.2 ng/ml) was secondary to an HCG-secreting mediastinal teratoma, with high plasma levels of HCG (75 and 355 mIU/ml). After surgery, plasma HCG was undetectable, but plasma testosterone (2.9 and 0.9 ng/ml) remained elevated and plasma gonadotropins rose (LH 5 and 4.7, FSH 2.2 and 10 mIU/ml). In the 3rd patient, aged 1 year, plasma testosterone (2.5 ng/ml), basal (LH 4.9, FSH 7.1 mIU/ ml) and post-LHRH (LH 20, FSH 14.5 mIU/ml) gonadotropins levels were increased. HCG was undetectable in plasma, cranial computerized tomography demonstrating an hamartoma of the 3rd ventricle. Karyotype was XXY in these 3 patients. These cases suggest 1/ that chromatine and/or karyotype must be studied in cases of male sexual precocity with small testes and normal adrenals; 2/ that there may be a relationship between the supernumerary X chromosome and the occurrence of tumors, particularly polyembryomas.
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Martinez, M., Chaussain, J., Lemerle, J. et al. Klinefelter syndrome, tumor and sexual precocity. Pediatr Res 15, 86 (1981). https://doi.org/10.1203/00006450-198101000-00089
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DOI: https://doi.org/10.1203/00006450-198101000-00089
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