Advertisement

Karyotyping of Infertile Males and Their ICSI Offspring

  • Sherman Silber
Chapter

Abstract

A massive summary of karyotyping results in newborn populations, reviewed by Van Assche, was published to determine to what extent chromosomal abnormalities could be responsible for the diagnosis of azoospermia. It revealed an incidence of balanced translocations in a normal newborn population of 0.25%. A similar review of 7876 men with infertility undergoing karyotyping revealed an incidence of balanced translocations of 1.3%, more than four times that found in normal newborns [1–3]. When the analysis is restricted to men with oligospermia (i.e., less than 20 million per mL), some type of autosomal chromosome anomaly, either balanced Robertsonian translocations, balanced reciprocal translocations, balanced inversions, or extra markers, is found in 3% of patients. In azoospermic men, the incidence of such translocations was less than in patients with severe oligospermia but still greater than 1%. Sex chromosomal anomalies, such as Klinefelter’s syndrome, were found in more than 5% of azoospermic men and in 1.6% of oligospermic men. It is known that Klinefelter’s (XXY) occurs in 1/1000 (0.1%) of newborns. If 0.5% of men have azoospermia, we would expect 5% of azoospermic men to have XXY Klinefelter’s.

References

  1. 1.
    Van Assche EV, Bonduelle M, Tournaye H et al (1996) Cytogenetics of infertile men. Hum Reprod 11:1–26CrossRefPubMedGoogle Scholar
  2. 2.
    Bonduelle M, Legein J, Derde MP et al (1995) Comparative follow-up study of 130 children born after ICSI and 130 children after IVF. Hum Reprod 10:3327–3331CrossRefPubMedGoogle Scholar
  3. 3.
    Bonduelle M, Willikens J, Buysse A et al (1996) Perspective study of 877 children born after intracytoplasmic sperm injection with ejaculated, epididymal, and testicular spermatozoa, and after replaced of cryopreserved embryos obtained after ICSI. Hum Reprod 11:131–159CrossRefPubMedGoogle Scholar
  4. 4.
    Sun C, Skaletsky H, Birren B et al (1999) An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet 23:429–432CrossRefPubMedGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Sherman Silber
    • 1
    • 2
  1. 1.Infertility Center of St. LouisSt. Luke’s HospitalSt. LouisUSA
  2. 2.University of MichiganAnn ArborUSA

Personalised recommendations