Germ-cell nondisjunction in testes biopsies of men with idiopathic

William J. Huang, Dolores J. Lamb, Edward Kim, Jocelyn De Lara, William W. Lin, Larry I. Lipshultz, Farideh Z. Bischoff

Research output: Contribution to journalArticle

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Abstract

Intracytoplasmic sperm injection (ICSI) has been used in combination with testicular sperm extraction to achieve pregnancies in couples with severe male-factor infertility, yet many of the underlying genetic mechanisms remain largely unknown. To investigate nondisjunction in mitotic and meiotic germ cells, we performed three-color FISH to detect numeric chromosome aberrations in testicular tissue samples from infertile men confirmed to have impaired spermatogenesis of unknown cause. FISH was employed to determine the rate of sex-chromosome aneuploidy in germ cells. Nuclei were distinguished as haploid or diploid, respectively. The overall incidence of sex-chromosome aneuploidy in germ cells was found to be significantly higher (P < .00001) in all three abnormal histopathologic patterns (range 39.0%-43.5%) as compared with normal controls (29.1%). The relative ratio of normal to aneuploid nuclei in the diploid cells of patients with impaired spermatogenesis was ~1.0, a >300% decrease when compared with the 4.42 ratio detected in patients with normal spermatogenesis. These results provide direct evidence of an increased incidence of sex-chromosome aneuploidy observed in germ cells of men with severely impaired spermatogenesis who might be candidates for ICSI with sperm obtained directly from the testis. The incidence of aneuploidy was significantly greater among the diploid nuclei, which suggests that chromosome instability is a result of altered genetic control during mitotic cell division and proliferation during spermatogenesis.

Original languageEnglish (US)
Pages (from-to)1638-1645
Number of pages8
JournalAmerican Journal of Human Genetics
Volume64
Issue number6
DOIs
StatePublished - Jan 1 1999

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Aneuploidy
Spermatogenesis
Germ Cells
Sex Chromosomes
Testis
Biopsy
Intracytoplasmic Sperm Injections
Diploidy
Spermatozoa
Incidence
Chromosomal Instability
Haploidy
Male Infertility
Chromosome Aberrations
Cell Division
Color
Cell Proliferation
Pregnancy

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Huang, W. J., Lamb, D. J., Kim, E., De Lara, J., Lin, W. W., Lipshultz, L. I., & Bischoff, F. Z. (1999). Germ-cell nondisjunction in testes biopsies of men with idiopathic. American Journal of Human Genetics, 64(6), 1638-1645. https://doi.org/10.1086/302402

Germ-cell nondisjunction in testes biopsies of men with idiopathic. / Huang, William J.; Lamb, Dolores J.; Kim, Edward; De Lara, Jocelyn; Lin, William W.; Lipshultz, Larry I.; Bischoff, Farideh Z.

In: American Journal of Human Genetics, Vol. 64, No. 6, 01.01.1999, p. 1638-1645.

Research output: Contribution to journalArticle

Huang, WJ, Lamb, DJ, Kim, E, De Lara, J, Lin, WW, Lipshultz, LI & Bischoff, FZ 1999, 'Germ-cell nondisjunction in testes biopsies of men with idiopathic', American Journal of Human Genetics, vol. 64, no. 6, pp. 1638-1645. https://doi.org/10.1086/302402
Huang, William J. ; Lamb, Dolores J. ; Kim, Edward ; De Lara, Jocelyn ; Lin, William W. ; Lipshultz, Larry I. ; Bischoff, Farideh Z. / Germ-cell nondisjunction in testes biopsies of men with idiopathic. In: American Journal of Human Genetics. 1999 ; Vol. 64, No. 6. pp. 1638-1645.
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