Cases reported "Klinefelter Syndrome"

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1/7. Birth of twin males with normal karyotype after intracytoplasmic sperm injection with use of testicular spermatozoa from a nonmosaic patient with Klinefelter's syndrome.

    OBJECTIVE: To report the birth of healthy twin males after the use of testicular spermatozoa from a nonmosaic patient with Klinefelter's syndrome. DESIGN: Case report. SETTING: Private reproduction center with university affiliation. PATIENT(S): A couple undergoing intracytoplasmic sperm injection (ICSI) combined with testicular sperm extraction because of the husband's secretory azoospermia and a nonmosaic 47,XXY peripheral blood karyotype. The wife, a healthy female, presented with a history of oligomenorrhea. INTERVENTION(S): ICSI was performed using testicular spermatozoa; 3 mM pentoxifylline solution was used to induce sperm motility because the spermatozoa recovered were all immotile. MAIN OUTCOME MEASURE(S): Normal fertilization, embryo cleavage, pregnancy outcome, and peripheral blood karyotype of the newborns. RESULT(S): Thirteen metaphase II oocytes were injected. Seven of them fertilized normally and six did not fertilize. Three good-quality embryos (4-cell stage class II) were transferred, and four were cryopreserved at the two-cell and four-cell stages using a slow freezing protocol. Twelve days after ET, a beta-hCG determination was positive. Ultrasonographic examination revealed three intrauterine fetal sacs, but one of them showed a fetal pole without cardiac activity and vanished in subsequent ultrasonographic examinations. The patient delivered twins with normal male peripheral blood karyotypes. CONCLUSION(S): Normal outcome after the use of testicular sperm extraction and ICSI in a nonmosaic patient with Klinefelter's syndrome reaffirms the notion of low transmission risk of this gonosomal aneuploidy.
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2/7. Testicular tissue extraction in a young male with 47,XXY Klinefelter's syndrome: potential strategy for preservation of fertility.

    OBJECTIVE: To describe a case involving the cryopreservation of testis tissue retrieved from a 15-year-old male teenager with Klinefelter's syndrome. DESIGN: Case report. SETTING: An academic medical center. PATIENT(S): A 15-year-old boy with Klinefelter's syndrome. INTERVENTION(S): Microsurgical testis sperm extraction with cryopreservation of harvested tissue. MAIN OUTCOME MEASURE(S): spermatozoa within testis tissue. RESULT(S): Successful extraction and cryopreservation of three vials of sperm-containing testis tissue. No effect on subsequent testosterone levels. CONCLUSION(S): testis tissue extraction in the adequately virilized but azoospermic young male with 47, XXY Klinefelter's syndrome may be a strategy to preserve future biological paternity.
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3/7. Birth of two infants with normal karyotype after intracytoplasmic injection of sperm obtained by testicular extraction from two men with nonmosaic Klinefelter's syndrome.

    OBJECTIVE: To report two births of a healthy male and a healthy female baby after use of testicular spermatozoa from two patients with nonmosaic Klinefelter's syndrome. DESIGN: Case report. SETTING: General academic hospital with IVF center and university institute of human genetics. PATIENT(S): Two couples with primary infertility in which the men had secretory azoospermia and nonmosaic 47,XXY karyotype. Both women had a normal karyotype and no gynecologic abnormalities. INTERVENTION(S): ICSI was performed using testicular spermatozoa after ovarian stimulation and transvaginal ultrasonography-guided oocyte pick-up. MAIN OUTCOME MEASURE(S): Normal fertilization, embryo cleavage, clinical pregnancy outcome, and peripheral blood karyotype of the newborn. RESULT(S): In each case, 13 metaphase II oocytes were injected, of which 7 fertilized normally. Three good-quality embryos (4-cell stage) were transferred into the uterine cavity. Both women conceived, and normal pregnancies followed. Genetic analysis of the neonates revealed normal 46,XX and 46,XY karyotypes. CONCLUSION(S): These case reports reaffirm that patients with nonmosaic Klinefelter's syndrome produce normal spermatozoa with fertilization potential. Although it is premature to make conclusions about the rate of transmission of this aneuploidy because of the low number of the published cases, this report substantiates the idea that rates of transmission of this gonosomal aneuploidy are low.
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4/7. Progressive depletion of germ cells in a man with nonmosaic Klinefelter's syndrome: optimal time for sperm recovery.

    We describe a sequential deteriorated change of sperm count in a 30-year-old infertile man with nonmosaic Klinefelter's syndrome. His initial semen analysis revealed oligozoospermia; however, the sperm count decreased progressively, which resulted in azoospermia over a period of 3 years. By testicular sperm extraction, a few spermatozoa were recovered. We analyzed the germ cells with three-color fluorescence in situ hybridization, and the presence of a 46,XY lineage was found. We suggest that progressive depletion of germ cells might occur in men with nonmosaic Klinefelter's syndrome and that these men should undergo semen cryopreservation or sperm recovery as early as possible.
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5/7. Four pregnancies in nonmosaic Klinefelter's syndrome using cryopreserved-thawed testicular spermatozoa.

    OBJECTIVE: To investigate feasibility of using cryopreserved-thawed testicular spermatozoa from patients with nonmosaic Klinefelter's syndrome for intracytoplasmic sperm injection (ICSI). DESIGN: Case report. SETTING: University-based hospital and IVF clinic. PATIENT(S): Six patients with nonmosaic Klinefelter's syndrome who underwent testicular sperm extraction for ICSI. INTERVENTION(S): microdissection testicular sperm extraction (TESE) and ICSI. MAIN OUTCOME MEASURE(S): We compared results of ICSI using cryopreserved testicular spermatozoa with those previously reported in Klinefelter's syndrome and those in nonobstructive azoospermia patients using cryopreserved testicular spermatozoa at our institution with respect to embryo cleavage rate, implantation rate, and pregnancy outcome. RESULT(S): Four of six patient couples with successful microdissection TESE achieved pregnancy using cryopreserved-thawed testicular spermatozoa. One pregnancy resulted in early-pregnancy abortion, two in delivery of healthy singleton girls, and one delivery of a healthy singleton boy. CONCLUSION(S): Cryopreserved-thawed testicular spermatozoa can be used successfully for ICSI in patients with nonmosaic Klinefelter's syndrome.
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6/7. testosterone-induced priapism in klinefelter syndrome.

    We present the case of a patient with klinefelter syndrome and priapism after testosterone administration. The patient underwent testicular sperm extraction for interventional fertilization, but no sperm were found. Because he had given up trying to father a child and his testosterone level had been low, testosterone replacement therapy was started with testosterone enanthate. After the third injection, he presented with low-flow priapism. Conservative management was successful, and no recurrence developed during the next 15 months. testosterone replacement therapy carries some risk of priapism even for patients with klinefelter syndrome.
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7/7. adult onset of declining spermatogenesis in a man with nonmosaic Klinefelter's syndrome.

    OBJECTIVE: To examine an unusual case of Klinefelter's syndrome. DESIGN: Case report. SETTING: An infertility clinic at a private hospital. PATIENT(S): A patient with nonmosaic Klinefelter's syndrome who had had a child with his ex-wife without artificial reproductive technologies. INTERVENTION(S): karyotyping with peripheral blood lymphocytes, microdissection testicular sperm extraction, and intracytoplasmic sperm injection (ICSI). MAIN OUTCOME MEASURE(S): sperm count and testicular histopathology. RESULT(S): semen analysis revealed severe oligoasthenozoospermia. Intracytoplasmic sperm injection using ejaculated spermatozoa was performed, and successful pregnancy and delivery were achieved. Two years later, multiple semen analyses revealed azoospermia. microdissection testicular sperm extraction was performed, and motile sperm were successfully retrieved. Unfortunately, the first cycle of ICSI using testicular sperm failed. Testicular histopathology was compatible with decreased spermatogenesis. CONCLUSION(S): This is a case of a man with nonmosaic Klinefelter's syndrome who exhibited progressive decline of spermatogenesis. This case suggests the merit of early sperm retrieval and cryopreservation for future management of infertility in Klinefelter's syndrome.
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