A Study of mitosis, meiosis, histology, and scanning electron microscopic details of spermatogenesis in an infertile male with probable 46,XY/47,XXY germinal mosaicism

Rajendra, Barathur R.; Lee, M; Amorosa, Louis F.; Sciorra, Leonard J.

doi:10.1002/ajmg.1320100205

Cited by 12 publications

(5 citation statements)

References 19 publications

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“…Results of meiotic studies of testicular preparations from KS individuals have also been equivocal. In an analysis of diakinesis preparations from a mosaic XY/XXY individual (Rajendra, et al, 1981), no evidence was found for the presence of XXY germ cells, suggesting that they were eliminated from the meiotic process. This interpretation is consistent with earlier reports (e.g.…”

Section: Discussionmentioning

confidence: 97%

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Meiotic aneuploidy in the XXY mouse: evidence that a compromised testicular environment increases the incidence of meiotic errors

1999

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Male mammals with two X chromosomes are sterile due to the loss of virtually all germ cells in the differentiating testis. The survival of rare germ cells, however, can give rise to patches of normal-appearing spermatogenesis in the adult testis. Intracytoplasmic sperm injection (ICSI) makes possible the establishment of a pregnancy using spermatozoa from severely oligozoospermic men and, indeed, has been successful using spermatozoa from human 47,XXY (Klinefelter syndrome) males. The risk of an abnormal pregnancy, however, may be significantly increased since several studies have demonstrated elevated levels of aneuploidy in spermatozoa from Klinefelter syndrome men. This has been suggested to reflect the consequences of meiotic segregation in XXY germ cells; however, it is also possible that it is a consequence of abnormalities in meiotic regulation in the XXY testis. We have addressed this question experimentally in the XXY male mouse. Analysis of testicular spermatozoa from XXY and control males demonstrates a significant increase in meiotic aneuploidy in the XXY mouse. Since previous studies have demonstrated that germ cells in the adult XXY testis are exclusively XY, the meiotic abnormalities observed must be attributable to segregation errors in XY germ cells. These findings have potential significance for ICSI pregnancies using spermatozoa from other types of male factor infertility patients, since they raise the possibility that increased meiotic errors are a generalized feature of the severely oligozoospermic testis.

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Section: Discussionmentioning

confidence: 97%

“…However, other reports have concluded that XXY germ cells are eliminated from the human testis (e.g. Rajendra et al, 1981) and that the rare surviving germ cells have an XY sex chromosome constitution.…”

Section: Introductionmentioning

confidence: 99%

Meiotic aneuploidy in the XXY mouse: evidence that a compromised testicular environment increases the incidence of meiotic errors

1999

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“…Meiotic studies in these patients usually revealed meiotic arrest at the first spermatocyte level with exceptional metaphase I figures (Luciani et al, 1970;Rajendra, 1981). Other authors have suggested that only the 46,XY germ cells in 46,XY/ 47,XXY patients are able to go through meiosis and produce mature spermatozoa in the ejaculate (Luciani et al, 1978;Vidal et al, 1984).…”

Section: Introductionmentioning

confidence: 99%

“…Males with Klinefelter's syndrome may have a mosaic 47,XXY or a 46,XY/47,XXY constitutional karyotype and varying degrees of spermatogenic failure. Testicular histological studies may reveal areas of atrophy and hyalinization of the seminiferous tubules as well as some areas with tubules of normal appearance with a reduced number of mature spermatozoa (Fergusson-Smith et al, 1957;Futterweit, 1967;Arce et al, 1980;Rajendra, 1981). Spermatozoa have occasionally been identified in the seminal ejaculate in some patients with Klinefelter's syndrome (Futterweit, 1967).…”

Section: Introductionmentioning

confidence: 99%

Assessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46,XY/47,XXY males: comparison with fertile and infertile males with normal karyotype

Rives

Joly

Machy

et al. 2000

Molecular Human Reproduction

104

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Sex chromosome aneuploidy was assessed in spermatozoa from a 47,XXY male and a 46,XY/47,XXY male using three colour fluorescence in-situ hybridization (FISH) and compared with two control groups. The first group included subjects of proven fertility and the second infertile males with normal constitutional karyotype. The frequencies of XX and YY disomic, XY hyperhaploid and diploid spermatozoa were significantly increased in the 47,XXY male compared to subjects from the two control groups (P < 0.0001). For the 46,XY/47,XXY sample, the same results were observed, except that the incidence of YY disomic spermatozoa did not differ significantly from the rate obtained in infertile patients. The frequency of sex chromosome aneuploidy did not differ significantly between the 47,XXY and the 46,XY/47,XXY males, except for XX disomic sperm nuclei which was higher in the 47,XXY patient. The frequency of chromosome 12 disomy was also increased in the two XXY individuals (0.42 and 0.49% respectively; P < 0.0001). The meiotic abnormalities observed in the two XXY patients arose through segregation errors in XY germ cells. The increased number of meiotic non-disjunctions observed in the germ cells of infertile males may be a common feature of the deficient oligo- or azoospermic testis. Patients with Klinefelter's syndrome with oligozoospermia have an increased risk of both sex chromosome and autosome aneuploidy in their progeny.

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“…Ein Mosaikstatus im Testisgewebe kann nicht gänzlich ausgeschlossen werden. Die wenigen Meioseuntersuchungen an Testisbiopsiematerial von Klinefelter-Patienten deuteten darauf hin, dass nur normale Keimzellen mit einem 46,XYKaryotyp die Meiose vollständig durchlaufen können (Kjessler 1966;Rajendra et al 1981). Allerdings zeigten Analysen von Skakkebaek et al (1969) an Diakinesestadien und von Vidal et al (1984) Among infertile men Klinefelter's syndrome is found with an incidence of about 3.5 %.…”

Section: Meiose Bei Klinefelterpatientenunclassified

Nummerische Aberrationen der Geschlechtschromosomen in Spermien von Klinefelter-Patienten

Guttenbach

Schmid

2000

Reproduktionsmedizin

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A Study of mitosis, meiosis, histology, and scanning electron microscopic details of spermatogenesis in an infertile male with probable 46,XY/47,XXY germinal mosaicism

Cited by 12 publications

References 19 publications

Meiotic aneuploidy in the XXY mouse: evidence that a compromised testicular environment increases the incidence of meiotic errors

Meiotic aneuploidy in the XXY mouse: evidence that a compromised testicular environment increases the incidence of meiotic errors

Assessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46,XY/47,XXY males: comparison with fertile and infertile males with normal karyotype

Nummerische Aberrationen der Geschlechtschromosomen in Spermien von Klinefelter-Patienten

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