This retrospective study demonstrates the clinical outcomes of patients with nonmosaic Klinefelter's syndrome (KS) who underwent preimplantation genetic testing (PGT) with frozen-thawed testicular spermatozoa. Microdissection testicular sperm extraction (micro-TESE) was performed for sperm retrieval. Next-generation sequencing (NGS) was conducted for embryo analysis. A total of 18 couples aged ≤35 years were included, and 22 oocyte retrieval cycles were completed. Euploidy was detected in 29 of 45 (64.4%) embryos. Additionally, the numbers of aneuploid and mosaic embryos detected were 8 (17.8%) and 8 (17.8%), respectively, regardless of a lack of sex chromosome abnormalities. Finally, 13 couples with euploid embryos completed 14 frozen embryo transfer (FET) cycles. Ten couples had clinical pregnancies, and 6 of them had already delivered 5 healthy babies and 1 monozygotic twin. There were also 4 ongoing pregnancies and 2 biochemical pregnancies, but no early pregnancy loss was reported. Based on our results, we speculate that for KS patients, when sperm can be obtained by micro-TESE, the cryopreservation strategy makes the ovarian stimulation procedure more favorable for female partners. The paternal genetic risk of sex chromosome abnormalities in their offspring is extremely low in men with KS. In addition to PGT, the intracytoplasmic sperm injection (ICSI) procedure is comparably effective but more economical for young nonmosaic KS couples. ICSI should be offered as an option for such couples, but monitoring by prenatal genetic diagnosis is recommended.
Adult ; Female ; High-Throughput Nucleotide Sequencing/methods* ; Humans ; Klinefelter Syndrome/therapy* ; Outcome Assessment, Health Care/statistics & numerical data* ; Ovulation Induction/statistics & numerical data* ; Pregnancy ; Retrospective Studies ; Sperm Injections, Intracytoplasmic/methods*

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

No abstract available.
Adult ; Antineoplastic Agents/therapeutic use ; *Chromosome Deletion ; *Chromosomes, Human, Pair 9 ; Cytogenetic Analysis ; DNA Mutational Analysis ; Fusion Proteins, bcr-abl/*antagonists & inhibitors/genetics/metabolism ; Gene Expression Regulation ; Humans ; Incidental Findings ; Klinefelter Syndrome/complications/diagnosis/*genetics ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/complications/diagnosis/*drug therapy/enzymology/genetics ; Male ; Molecular Targeted Therapy ; Protein Kinase Inhibitors/*therapeutic use ; Remission Induction ; Time Factors ; Treatment Outcome

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

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

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

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 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

OBJECTIVESTo observe the change of erythropoietin (EPO) in patients of hypogonadism who received androgen replacement treatment and explore the mechanism of androgen-induced increase of red blood cells and haemoglobin.

METHODSEight patients with Klinefelter's syndrome, divided into two groups, received TU intramuscular injections of 500 mg or 1000 mg dose, respectively. After three months, seven patients received the second injection of crossover dose. Testosterone levels in serum were measured with RIA before and after the injections treatment. RBC count, impacted volume of blood cells and haemoglobin concentration were measured before treatment and 4, 8 weeks after treatment. At the same interval, EPO levels were measured with ELISA method.

RESULTSDevelopment of the secondary sex characters was improved in all patients after the TU injection. Serum testosterone levels raised significantly and reached the peak one week after the injections. Effective level of testosterone lasted for over 6 weeks. RBC count, impacted volume of blood cells and haemoglobin increased at different degrees after TU injections, but these changes were not significant in statistic(P < 0.05). The increased levels remained for 8 weeks. EPO levels were elevated significantly (P < 0.01 or 0.05) after the TU injection(Pbat > 0.05). The second injection could still make the EPO level go up.

CONCLUSIONSAndrogen replacement treatment can increase the EPO levels in patients of hypogonadism, which is one of the mechanism of RBC production increase.

Adolescent ; Adult ; Enzyme-Linked Immunosorbent Assay ; Erythropoietin ; blood ; Humans ; Injections, Intramuscular ; Klinefelter Syndrome ; blood ; drug therapy ; Male ; Radioimmunoassay ; Testosterone ; administration & dosage ; analogs & derivatives ; blood ; therapeutic use

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