Outline
In patients carrying a mosaic Klinefelter syndrome (46,XY/47,XXY), previous studies of sex chromosome segregation by sperm karyotyping (2) or fluorescent in situ hybridization (FISH) (3) or HIS (4) have shown that the percentage of hyperhaploid spermatozoa (24,XY) ranged from 0.9% to 2.1%. In subjects carrying a homogeneous somatic karyotype 47,XXY, previous data have shown variable hyperhaploidies rates, ranging from 1.36% to 25%, as well as variable sex ratios (5-7).
The aim of the present work was to collect more data in order to better evaluate the risk of sex chromosome aneuploidies in the spermatozoa (and in the potential offspring) of these patients. Using multicolor FISH, the segregation of the chromosomes X, Y, and 1 was analyzed in 502 spermatozoa from a sperm sample of a first 47,XXY patient, who was a candidate for ICSI. The percentage of hyperhaploid spermatozoa 24,XY was 3.6%, which represents more than 10 times this abnormality in control donors. The sex ratio (23X/23Y) was 1.12.
This work confirms that a few germinal cells with a 47,XXY chromosomal constitution are able to achieve meiosis and spermiogenesis and produce mature spermatozoa. However, a high inter-individual variability seems to appear when the data from the few published studies are compared. Indeed, the presence of a remaining spermatogenesis, the sex ratio and the percentage of spermatozoa carrying a sex chromosomes hyperhaploidy are different from one 47,XXY patient to another. Therefore, a study of the sex chromosome segregation in these patients seems to be appropriate when they are candidates for ICSI. Moreover, the segregation of the autosomes might also be disturbed, but this remains to be studied. It is under current investigation in the present case.
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Section Description^
ABSTRACTS OF ORAL AND POSTER PRESENTATIONS 48TH ANNUAL MEETING OF THE PACIFIC COAST REPRODUCTIVE SOCIETY; APRIL 26-30, 2000 PROGRAM SUPPLEMENT
The program abstracts of this booklet are provided to the members of the Pacific Coast Reproductive Society for their use in planning for the Annual Meeting.
The abstracts are those that will be presented in both oral and poster sessions and are published in the order of their presentation. Abstracts of special lecture and clinical seminars are not included.