title: Klinefelter's syndrome in the male infertility clinic.
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.
authors.affiliation: Department of Urology, Kobe University School of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Okada
authors.forename: H
authors.initials: H
authors.lastname: Fujioka
authors.forename: N
authors.initials: N
authors.lastname: Tatsumi
authors.forename: M
authors.initials: M
authors.lastname: Kanzaki
authors.forename: Y
authors.initials: Y
authors.lastname: Okuda
authors.forename: M
authors.initials: M
authors.lastname: Fujisawa
authors.forename: M
authors.initials: M
authors.lastname: Hazama
authors.forename: O
authors.initials: O
authors.lastname: Matsumoto
authors.forename: K
authors.initials: K
authors.lastname: Gohji
authors.forename: S
authors.initials: S
authors.lastname: Arakawa
authors.forename: S
authors.initials: S
authors.lastname: Kamidono
mesh_terms: D000328:Adult; D006801:Humans; D007248:Infertility, Male / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D007621:Karyotyping; D007713:Klinefelter Syndrome; D008297:Male; D011003:Ploidies; D012099:Reproductive Techniques; D013094:Spermatozoa