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- Title
Klinefelter's syndrome in the male infertility clinic.
- Authors
Okada, H; Fujioka, H; Tatsumi, N; Kanzaki, M; Okuda, Y; Fujisawa, M; Hazama, M; Matsumoto, O; Gohji, K; Arakawa, S; Kamidono, S
- Abstract
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.
- Subjects
INFERTILITY treatment; GENES; HUMAN reproductive technology; INFERTILITY; KARYOTYPES; KLINEFELTER'S syndrome; SPERMATOZOA
- Publication
Human Reproduction, 1999, Vol 14, Issue 4, p946
- ISSN
0268-1161
- Publication type
journal article
- DOI
10.1093/humrep/14.4.946