Human Reproduction, Vol. 14, No. 4, 946-952,
April 1999
© 1999 European Society of Human Reproduction and Embryology
Klinefelter's syndrome in the male infertility clinic
Department of Urology, Kobe University School of Medicine, Kobe, Japan
The clinical features of patients with Klinefelter's syndrome attending a male infertility clinic have been investigated in order to consider their assisted reproduction treatment options. Over 12 years, a total of 148 patients with sterility due to azoospermia had Klinefelter's syndrome. Eight patients were shown by fluorescence in-situ hybridization (FISH) on metaphase spreads to be mosaic (46,XY/47,XXY), and 140 patients showed only 47,XXY. Small testes were observed in 95% of patients and gynaecomastia was seen in 12.4%. Half of the patients showed hypergonadotrophic hypogonadism, while others showed normogonadism (usually hypergonadotrophic). Spermatozoa were observed in semen from one patient with mosaicism and one without. Three-colour FISH revealed hyperploidy in 2.7% and 2.3% of these spermatozoa respectively. Multiple-site testicular biopsies in five recent patients were performed and yielded a specimen with round and elongated spermatids in one patient with 47,XXY karyotype. This sample was cryopreserved for future intracytoplasmic sperm injection. At follow-up, 46% of couples had chosen artificial insemination with donor sperm, and none had chosen adoption. Two patients developed testicular tumours, one a mature teratoma and the other a Leydig cell tumour. Two patients required androgen replacement therapy.
Key words: FISH/ICSI/infertility/Klinefelter's syndrome/spermatozoa
1 To whom correspondence should be addressed at: Department of Urology, Kobe University School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Japan 650-0017
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