title: Birth of healthy neonates after intracytoplasmic injection of ejaculated or testicular spermatozoa from men with nonmosaic Klinefelter's syndrome: a report of 2 cases.
abstract: BACKGROUND
  Klinefelter's syndrome is one of the major causes of azoospermia, cryptozoospermia and severe oligozoospermia with either a nonmosaic (47,XXY) or mosaic (47,XXY/46,XY) ICSI treatment with cryopreserved testicular spermatozoa failed, but after the third attempt, 6 of 8 oocytes injected with cryopreserved sperm were fertilized and karyotype. Men with Klinefelter's syndrome generally have difficulty having children.
  
  
  METHODS
  Patient 1 had motile spermatozoa in the ejaculate, which were injected into 3 oocytes, resulting in fertilization and cleavage. Two good-quality embryos were transferred into his wife's uterine cavity. She conceived and, following a normal pregnancy, delivered a healthy female infant. Two years later she conceived for the second time with motile spermatozoa in the ejaculate and delivered a healthy male infant uneventfully. To our knowledge, this was the first case in which a nonmosaic Kleinefelter's syndrome patient fathered 2 children through intracytoplasmic sperm injection (ICSI) using motile spermatozoa in the ejaculate. Patient 2, with azoospermia, was subjected to testicular biopsy to collect spermatozoa. The first 2 attempts at ICSI treatment with cryopreserved testicular spermatozoa failed, but after the third attempt, 6 of 8 oocytes injected with cryopreserved sperm were fertilized and cleaved. Two of these embryos were transferred into the wife's uterine cavity. She conceived and, following a normal pregnancy, delivered a healthy male infant. In all cases, amniocentesis followed by genetic analysis showed a normal karyotype.
  
  
  CONCLUSIONS
  Two infertile men with nonmosaic Klinefelter's syndrome successfully fathered normal children after intracytoplasmic injection of ejaculated or testicular spermatozoa.
authors.affiliation: Department of Obstetrics and Gynecology, Hyogo College of Medicine, Nishinomiya, Hyogo, Japan. komor615@hyo-med.ac.jp
authors.forename: Shinji
authors.initials: S
authors.lastname: Komori
authors.forename: Isao
authors.initials: I
authors.lastname: Horiuchi
authors.forename: Yukari
authors.initials: Y
authors.lastname: Hamada
authors.forename: Akiko
authors.initials: A
authors.lastname: Hasegawa
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kasumi
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Kondoh
authors.forename: Hideaki
authors.initials: H
authors.lastname: Sawai
authors.forename: Hideaki
authors.initials: H
authors.lastname: Toji
authors.forename: Minoru
authors.initials: M
authors.lastname: Shigeta
authors.forename: Hiroki
authors.initials: H
authors.lastname: Shima
authors.forename: Koji
authors.initials: K
authors.lastname: Koyama
mesh_terms: D000328:Adult; D004542:Ejaculation; D004624:Embryo Transfer; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007713:Klinefelter Syndrome / Q000150:complications*; D008297:Male; D008845:Microinjections / Q000379:methods; D009845:Oligospermia / Q000209:etiology / Q000628:therapy; D011247:Pregnancy; D011256:Pregnancy Outcome; D020554:Sperm Injections, Intracytoplasmic / Q000379:methods; D013997:Time Factors; D020858:Tissue and Organ Harvesting / Q000379:methods