Hormonal studies in a male with a 47,XXX chromosome constitution: comparison with the hormonal pattern of a 46,XX male and patients with Klinefelter's syndrome.
Chromosome analysis in peripheral blood lymphocytes and skin fibroblasts of a 18 year old chromatin-positive man showed a 47,XXX karyotype. The following hormonal studies were performed: 1) FSH and LH response to GnRH; 2) hypothalamic-pituitary responsiveness to short-term testosterone administration; 3) plasma levels of testosterone, dihydrotestosterone, 17-hydroxyprogesterone, estradiol before and after hCG stimulation. Results were compared with similar studies performed in a 46,XX male and in a group of patients with Klinefelter's syndrome. Our data support the hypothesis that this rare cytogenetical disorder can be considered, from the endocrine point of view, as a variant of the Klinefelter's syndrome.
D000293:Adolescent; D006063:Chorionic Gonadotropin; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007713:Klinefelter Syndrome / Q000235:genetics* / Q000503:physiopathology; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics* / Q000503:physiopathology; D013739:Testosterone / Q000097:blood
D006063:Chorionic Gonadotropin; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone