1/3. The pituitary in klinefelter syndrome.BACKGROUND: klinefelter syndrome is a genetically determined primary gonadal defect characterized by the XXY karyotype. The testes are small, blood testosterone levels are low, and blood gonadotropin levels are elevated. Pituitary changes in patients with klinefelter syndrome have not been evaluated in detail. DESIGN: The first patient, a 76-yr-old man, was operated for a large sellar mass. The second and third patients, a 62- and a 52-yr-old man, respectively, died of cardiac failure. Both the latter pituitaries were normal-sized and removed at autopsy. The diagnosis of klinefelter syndrome was confirmed by genetic testing in all three cases. The formalin-fixed and paraffin-embedded pituitaries of three patients were evaluated for adenohypophysial hormone immunoreactivity. For immunohistochemistry, the streptavidin- biotin-peroxidase (ABC) complex method was applied. RESULTS: In case 1, histology and immunohistochemistry revealed an oncocytic gonadotroph macroadenoma immunoreactive for FSH and alpha subunit. No pituitary gland was evident. The pituitary of case 2 featured hyperplasia of gonadotrophs, some with features of "gonadal deficiency cells," and a microadenoma immunoreactive for GH. The pituitary of case 3 similarly showed hyperplasia of gonadotrophs and the formation of gonadal deficiency cells. CONCLUSION: Protracted stimulation of gonadotrophs due to lack of androgen feedback might have been a factor in the formation of the gonadotroph adenoma in case 1 and in the development of gonadotroph hyperplasia in cases 2 and 3. The clinically silent GH microadenoma of case 2 was regarded as an incidental finding.- - - - - - - - - - ranking = 1keywords = klinefelter syndrome, klinefelter (Clic here for more details about this article) |
2/3. Systemic lupus erythematosus associated with klinefelter's syndrome.Studies in estrogen metabolism were carried out in 2 males with systemic lupus erythematosus (SLE) who also had Klinefelter's syndrome. Although these studies revealed elevated levels of urinary estrogens in 1 patient, abnormalities of estradiol metabolism suggesting persistent estrogen stimulation were detected in both. This report notes an association between SLE and Klinefelter's syndrome and suggests that chronic estrogenic stimulation may be significant in the development of SLE in these 2 patients.- - - - - - - - - - ranking = 0.24479909012404keywords = klinefelter (Clic here for more details about this article) |
3/3. Conventional and molecular cytogenetic identification of a variant klinefelter syndrome patient with a deleted x chromosome.We report on the case of a 34-year-old patient with the klinefelter syndrome and an unusual cytogenetic finding of a deletion involving the short arm of the x chromosome. This was confirmed with fluorescent in situ hybridization (FISH) using an x chromosome-specific whole chromosome painting probe. The patient presented with infertility. The only abnormal physical findings were atrophic testes with azoospermia and elevated levels of follicle-stimulating hormone and luteinizing hormone. This case represents a relatively mild manifestation of the klinefelter syndrome. Previous reported cases were often associated with more severe phenotypes such as variable degrees of mental retardation and facial dysmorphism, hypothesized as due to the failure of X inactivation. The X inactivation center, located on Xq13, is presumably intact in our patient, who had a deletion involving only the short arm. The mild phenotype observed in our patient was found to be consistent with the conventional and molecular cytogenetic findings.- - - - - - - - - - ranking = 1keywords = klinefelter syndrome, klinefelter (Clic here for more details about this article) |