Acupuncture Therapy ; Humans ; Infant ; Klinefelter Syndrome ; genetics ; therapy ; Male

Adult ; Fertilization in Vitro ; Humans ; Infertility, Male/therapy* ; Klinefelter Syndrome/genetics* ; Male ; Sperm Injections, Intracytoplasmic ; Sperm Retrieval

PURPOSE: Klinefelter syndrome (KS) is related to testicular insufficiency, which causes low testosterone levels in serum. Generally, sex hormone levels and bone mineral density (BMD) are lower in patients with KS than normal. We investigated the effects of testosterone replacement on serum testosterone levels and BMD in KS patients. MATERIALS AND METHODS: From December 2005 to March 2008, 18 KS patients with a 47, XXY karyotype were treated with initial intramuscular injections of long-acting testosterone undecanoate (Nebido(R), 1000 mg/4 mL) at baseline and second injections after six weeks. An additional four injections were administered at intervals of 12 weeks after the second injection. BMD was measured at the lumbar spine (L2-4), the left femoral neck and Ward's triangle, using dual energy X-ray absorptiometry. Medical histories, physical examinations and prostate specific antigen, hematology and serum chemistry were conducted for each patient. In addition, total testosterone and sex hormone-binding globulin levels were measured. RESULTS: Following testosterone replacement, mean serum total testosterone increased significantly from baseline (0.90 vs. 4.51 ng/mL, p<0.001), and total testosterone rose to normal levels after replacement in all patients. The mean BMD of the lumbar spine increased significantly (0.91 vs. 0.97 g/cm2, p<0.001). Similar increases of BMD were also observed at the femoral neck, but this increase was not significant. CONCLUSION: These findings suggest that testosterone replacement therapy may be effective in treating BMD deficiency in men with testosterone deficiency, especially those with Klinefelter syndrome.
Adult ; Bone Density/*drug effects ; Female ; Hormone Replacement Therapy/*methods ; Humans ; Klinefelter Syndrome/*drug therapy ; Male ; Testosterone/*therapeutic use

Patients with Klinefelter's syndrome are generally characterized by a 47, XXY karyotype, seminiferous tubule dysgenesis, azoospermia and infertility. However, focal spermatogenesis and severe oligozoospermia have been found in a few cases of 47, XXY, too. With the recent development in assisted reproductive technologies, the recovered spermatozoa by testicular biopsy from Klinefelter patients have been used for intracytoplasmic sperm injection (ICSI) and over 30 healthy neonates have been born. The conception of one 47, XXY fetus was found and then underwent abortion. This review focuses on the ICSI treatment of infertility in Klinefelter patients and the risk of chromosome anomaly in the offspring of these patients.
Chromosome Disorders ; etiology ; Female ; Humans ; Infertility, Male ; etiology ; therapy ; Karyotyping ; Klinefelter Syndrome ; complications ; genetics ; Male ; Pregnancy ; Sperm Injections, Intracytoplasmic

OBJECTIVETo explore the correlation of the testosterone level with circulated endothelial progenitor cells in patients with Klinefelter's syndrome (KS) and its clinical significance.

METHODSThis study included 36 patients affected by non-mosaic 47, XXY KS, each with one or more cardiovascular risk factors. Serum hormone levels and the content of circulated endothelial progenitor cells were determined by radioimmunology and cell culture methods, respectively, and the measurement was repeated after 6 months of testosterone replacement therapy.

RESULTSAfter testosterone replacement therapy, the testosterone level was increased from (8 +/- 3) to (24 +/- 10) nmol/L, while the content of endothelial progenitor cells ([41 +/- 48] cells/ml) showed no significant rise.

CONCLUSIONThere is no obvious correlation between the testosterone level and the content of endothelial progenitor cells in KS patients.

Adult ; Cell Count ; Endothelial Cells ; cytology ; Hormone Replacement Therapy ; Humans ; Infertility, Male ; blood ; Klinefelter Syndrome ; blood ; drug therapy ; Male ; Stem Cells ; cytology ; Testosterone ; blood ; therapeutic use

OBJECTIVETo observe the segregation of sex chromosomes in the spermatozoa of a 46, XY/47, XXY patient with oligozoospermia.

METHODSThe number of X and Y chromosomes of the ejaculated spermatozoa from the patient with mosaic 46, XY/47, XXY was analysed by X/Y dual fluorescence in-situ hybridization (FISH).

RESULTSOf the 100 spermatozoa analysed, 97 showed either one X chromosome-specific green signal or one Y-chromosome-specific red Y signal in each spermatozoon and only 3 showed no signal. The frequencies of X- and Y-bearing spermatozoa were 49% and 48% respectively. The ratio of X- to Y-bearing spermatozoa was about 1:1 as expected. There was no statistical difference between the chromosome XX and XY frequencies in each spermatozoon from the patient in comparison with those estimated in the control.

CONCLUSIONThe spermatozoa of 46, XX/47, XXY mosaic patients have a normal gonosomal complement, which allows infertility treatment to be carried out by ICSI.

Adult ; Chromosomes, Human, X ; Chromosomes, Human, Y ; Humans ; In Situ Hybridization, Fluorescence ; Klinefelter Syndrome ; genetics ; therapy ; Male ; Oligospermia ; genetics ; therapy ; Sperm Injections, Intracytoplasmic

To assess the correlation between the remaining serum testosterone and bone mineral density(BMD), and to determine the effect of exogenous testosterone on BMD in subjects with male hypogonadism, we evaluated the serum testosterone levels and BMDs of the femur neck, Ward's triangle and the spine(L1-4) in 20 subjects with Klinefelter's syndrome and 7 with hypogonadotropic hypogonadism before and after testosterone replacement. BMDs of the femur neck, Ward's triangle and the spine were below the age-matched normal mean at 77.8%(21/20), 74.1%(20/27) and 88.9%(24/27), respectively. There were significant differences in serum testosterone levels and the spinal BMD between the two groups and the BMD of the spine closely correlated with the serum testosterone level (R = 0.63, p < 0.001). Following a mean 11.8 +/- 4.9 months of testosterone replacement, the BMD at all sites increased significantly and the pretreatment difference in spinal BMD between the two groups disappeared. We conclude that, although testosterone may increases the bone density, it has a site-specific effect of maintaining and increasing the bone mass especially at the spine in male hypogonadism.
Adult ; Bone Density/*drug effects/physiology ; Human ; Hypogonadism/blood/*metabolism ; Klinefelter Syndrome/blood/drug therapy/*metabolism ; Male ; Middle Age ; Testosterone/blood/metabolism/*pharmacology

Recently, with the influence of mass media and sexual liberation, the patients have been increasing to visit the impotence clinic with male sexual dysfunction during early married period. We studied twenty five patients suffering from honeymoon impotence from Jan. 1985 to Mar. 1990. The results were as follows : 1. Age distributions were 25 to 40 years old with a mean of 30. The interval of impotence prior to visit were 2 days to 3 years after marriage and the 17 patients ( 68.0% ) were within 3 months. 2. There was no significance according to the school career and the occupations of patients. 3. Except 5 patients, 20 were primary impotences that were possible premarital sexual coitus on history. One of these had the history of psychiatric consultation by sexual problems and another had moderate mental retardation. 4. On first visit, 11 of 25 were on doing the separation or divorce suits. 5. Except 1 with Klinefelter's syndrome, all were organically normal erectile function tests including nocturnal penile tumescence test. 6. Of 14 patients who accepted to therapy, 10 were able to gel desirable sexual life with one or the combination of following : supportive psychotherapy, yohimbine administration, intracavernous pharmacotherapy and vacuum tumescence enhancement therapy. The rest 4 were able to get penile erection, but sexual life was also failed with their wives. The honeymoon impotence is mostly pychogenic and also easily curable with its recent increasing frequency. However, because of the associating problems of separation, divorce and alimony, we think that the diagnosis and treatment of honeymoon impotence might be performed with prudent approach.
Adult ; Age Distribution ; Coitus ; Diagnosis ; Divorce ; Drug Therapy ; Erectile Dysfunction* ; Humans ; Intellectual Disability ; Klinefelter Syndrome ; Male ; Marriage ; Mass Media ; Occupations ; Penile Erection ; Psychotherapy ; Spouses ; Vacuum ; Yohimbine

Klinefelter's syndrome is characterized by small testes, azoospermia, gynecomastia, and elevated levels of plasma gonadotropins in men with two or more X chromosomes. Previous investigators reported that patients with Klinefelter's syndrome are predisposed to the development of a non-seminomatous germ cell tumor in the mediastinum. It is suggested that this linkage may be due to the hormonal imbalance in Klinefelter's syndrome and consequently, the formation of dysgenetic germ cell and/or abnomal migration of germ cell. We report here a case of Klinefelter's syndrome in a 24-years-old man who was presented with anterior mediastinal mass. The clinical and laborarotory findings were compatible with Klinefelter's syndrome and he was found to have 47 XXY karyotype. Pathological findings for mediastinal mass revealed mixed germ cell tumor composed of mature cystic teratoma and endodermal sinus tumor. He was treated with cis-platin containing chemotherapy and followed up in partial remission.
Azoospermia ; Drug Therapy ; Endodermal Sinus Tumor ; Germ Cells* ; Gonadotropins ; Gynecomastia ; Humans ; Karyotype ; Klinefelter Syndrome* ; Male ; Mediastinum ; Neoplasms, Germ Cell and Embryonal* ; Plasma ; Research Personnel ; Teratoma ; Testis ; X Chromosome

Primary mediastinal nonseminomatous germ cell tumor associated with Klinefelter's syndrome is a rare disorder. We experienced a case of recurred primary mediastinal nonseminomatous germ cell tumor developed in a 24-year-old patient with Klinefelter's syndrome. The patient had been treated with surgery and combination chemotherapy under the diagnosis of primary mediastinal nonseminomatous germ cell tumor before. A round mass was found on the right lower lung field in the chest X-ray during follow up. The patient was diagnosed as recurred primary nonseminomatous germ cell tumor and Klinefelter's syndrome through tumor markers, peripheral blood karyotyping, and other tests including hormonal assay and was treated with combination chemotherapy and surgery again. When the patient is diagnosed as primary mediastinal nonseminomatous germ cell tumor, Klinefelter's syndrome and hematologic malignancies should be considered to be associated diseases and vice versa.
Diagnosis ; Drug Therapy, Combination ; Follow-Up Studies ; Germ Cells* ; Hematologic Neoplasms ; Humans ; Karyotyping ; Klinefelter Syndrome* ; Lung ; Neoplasms, Germ Cell and Embryonal* ; Thorax ; Biomarkers, Tumor ; Young Adult