Birth of healthy neonates after intracytoplasmic injection of ejaculated or testicular spermatozoa from men with nonmosaic Klinefelter's syndrome: a report of 2 cases.
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.
Komori
Shinji
S
Department of Obstetrics and Gynecology, Hyogo College of Medicine, Nishinomiya, Hyogo, Japan. komor615@hyo-med.ac.jp
Horiuchi
Isao
I
Hamada
Yukari
Y
Hasegawa
Akiko
A
Kasumi
Hiroyuki
H
Kondoh
Nobuyuki
N
Sawai
Hideaki
H
Toji
Hideaki
H
Shigeta
Minoru
M
Shima
Hiroki
H
Koyama
Koji
K
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