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Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome.
Hum Reprod. 2005 May; 20(5):1248-55.HR

Abstract

BACKGROUND

Gonosomal aneuploidies such as Klinefelter syndrome (47,XXY) are the most frequent chromosomal aberration in infertile men. Normally the chromosomal status of patients is detected by karyotyping of up to 20 metaphase spreads of lymphocyte nuclei, whereby low grade mosaicism may be overlooked. To test whether Klinefelter patients with 47,XXY karyotype or infertile men with 46,XY karyotype represent gonosomal mosaicisms, we performed meta- and interphase fluorescence in situ hybridization (FISH) on 45 men.

METHODS AND RESULTS

A total of 400 interphase and 40 metaphase lymphocyte nuclei per patient were scored after hybridization with DNA probes specific for chromosomes X and Y, and chromosome 9 as a control. On the basis of conventional karyotype, hormone levels and clinical appearance, patients were subdivided into 18 Klinefelter syndrome patients with 47,XXY (group I), 11 Klinefelter syndrome-like patients with normal karyotype, 46,XY (group II) and six non-Klinefelter-like infertile patients with normal 46,XY karyotype (group III). Ten normal men (group IV) served as controls. Testicular volume in the Klinefelter group I was smaller compared with group II (P = 0.016), group III (P < 0.001) and group IV (P < 0.001). In addition, testicular volumes in group II were lower compared with group III and group IV (P < 0.004). No significant differences between the aneuploidy rate analysed by FISH in interphase nuclei and metaphases were found in either single patients or groups. Patients with Klinefelter syndrome, 47,XXY (group I) or with symptoms similar to those in Klinefelter patients 46,XY (group II) showed a similar aneuploidy rate (group I 7.1 +/- 4.0% and group II 4.6 +/- 3.4%) and two 47,XXY patients with a high prevalence for normal 46,XY lymphocytes had sperm in their ejaculate. However, in general, no correlations between FISH mosaic status and serum hormone parameters, nor with ejaculate parameters were found.

CONCLUSIONS

The results suggest that 47,XXY patients with an increased incidence of XY cells (average of 4.2 +/- 2.3) may have a higher probability of germ cells as we found sperm only in the ejaculate of Klinefelter syndrome patients with mosaic 46,XY cells (6.0 and 7.0%). On the other hand, 46,XY patients with mosaic sex chromosome aneuploidies detected by FISH analysis more often show symptoms of hypogonadism phenotypically resembling Klinefelter syndrome.

Authors+Show Affiliations

Institute of Reproductive Medicine and Institute of Human Genetics, Westphalian Wilhelms-University, Münster, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

15665007

Citation

Lenz, P, et al. "Mosaic Status in Lymphocytes of Infertile Men With or Without Klinefelter Syndrome." Human Reproduction (Oxford, England), vol. 20, no. 5, 2005, pp. 1248-55.
Lenz P, Luetjens CM, Kamischke A, et al. Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome. Hum Reprod. 2005;20(5):1248-55.
Lenz, P., Luetjens, C. M., Kamischke, A., Kühnert, B., Kennerknecht, I., & Nieschlag, E. (2005). Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome. Human Reproduction (Oxford, England), 20(5), 1248-55.
Lenz P, et al. Mosaic Status in Lymphocytes of Infertile Men With or Without Klinefelter Syndrome. Hum Reprod. 2005;20(5):1248-55. PubMed PMID: 15665007.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome. AU - Lenz,P, AU - Luetjens,C M, AU - Kamischke,A, AU - Kühnert,B, AU - Kennerknecht,I, AU - Nieschlag,E, Y1 - 2005/01/21/ PY - 2005/1/25/pubmed PY - 2005/9/1/medline PY - 2005/1/25/entrez SP - 1248 EP - 55 JF - Human reproduction (Oxford, England) JO - Hum. Reprod. VL - 20 IS - 5 N2 - BACKGROUND: Gonosomal aneuploidies such as Klinefelter syndrome (47,XXY) are the most frequent chromosomal aberration in infertile men. Normally the chromosomal status of patients is detected by karyotyping of up to 20 metaphase spreads of lymphocyte nuclei, whereby low grade mosaicism may be overlooked. To test whether Klinefelter patients with 47,XXY karyotype or infertile men with 46,XY karyotype represent gonosomal mosaicisms, we performed meta- and interphase fluorescence in situ hybridization (FISH) on 45 men. METHODS AND RESULTS: A total of 400 interphase and 40 metaphase lymphocyte nuclei per patient were scored after hybridization with DNA probes specific for chromosomes X and Y, and chromosome 9 as a control. On the basis of conventional karyotype, hormone levels and clinical appearance, patients were subdivided into 18 Klinefelter syndrome patients with 47,XXY (group I), 11 Klinefelter syndrome-like patients with normal karyotype, 46,XY (group II) and six non-Klinefelter-like infertile patients with normal 46,XY karyotype (group III). Ten normal men (group IV) served as controls. Testicular volume in the Klinefelter group I was smaller compared with group II (P = 0.016), group III (P < 0.001) and group IV (P < 0.001). In addition, testicular volumes in group II were lower compared with group III and group IV (P < 0.004). No significant differences between the aneuploidy rate analysed by FISH in interphase nuclei and metaphases were found in either single patients or groups. Patients with Klinefelter syndrome, 47,XXY (group I) or with symptoms similar to those in Klinefelter patients 46,XY (group II) showed a similar aneuploidy rate (group I 7.1 +/- 4.0% and group II 4.6 +/- 3.4%) and two 47,XXY patients with a high prevalence for normal 46,XY lymphocytes had sperm in their ejaculate. However, in general, no correlations between FISH mosaic status and serum hormone parameters, nor with ejaculate parameters were found. CONCLUSIONS: The results suggest that 47,XXY patients with an increased incidence of XY cells (average of 4.2 +/- 2.3) may have a higher probability of germ cells as we found sperm only in the ejaculate of Klinefelter syndrome patients with mosaic 46,XY cells (6.0 and 7.0%). On the other hand, 46,XY patients with mosaic sex chromosome aneuploidies detected by FISH analysis more often show symptoms of hypogonadism phenotypically resembling Klinefelter syndrome. SN - 0268-1161 UR - https://www.unboundmedicine.com/medline/citation/15665007/Mosaic_status_in_lymphocytes_of_infertile_men_with_or_without_Klinefelter_syndrome_ L2 - https://academic.oup.com/humrep/article-lookup/doi/10.1093/humrep/deh745 DB - PRIME DP - Unbound Medicine ER -