Genetic concerns for the subfertile male in the era of ICSI

Edward Kim, Farideh Z. Bischoff, Larry I. Lipshultz, Dolores J. Lamb

Research output: Contribution to journalReview article

24 Citations (Scopus)

Abstract

The treatment of severe male factor infertility has seen remarkable advances in the last five years with the introduction and widespread use of intracytoplasmic sperm injection (ICSI). Although ICSI represents one of the most important advances in the treatment of the subfertile male, significant concerns exist regarding the potential for transmission of abnormal genes to the offspring because many of the natural barriers to conception have been bypassed. Because these couples were not able to conceive prior to ICSI, the long-term genetic consequences in these offspring are largely undefined at this time. Genetic abnormalities related to male infertility need to be considered in terms of being: (1) causative for male infertility and (2) potentially transmissible to the offspring. Reasons for pursuing a genetic evaluation include (1) establishing a diagnosis, (2) establishing a possible genetic origin, (3) clarifying the pattern of inheritance, and (4) providing information on natural history, variation and expression. The three most common known genetic factors related to male infertility are cystic fibrosis gene mutations leading to congenital absence of the vas deferens, Y-chromosome microdeletions leading to spermatogenic impairment, and karyotype abnormalities. When congenital bilateral absence of the vas deferens with azoospermia is encountered, cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations are commonly the underlying cause. When testicular failure is manifest by azoospermia or severe oligoszoospermia, Y-chromosome microdeletions may be present in approximately 10-15 per cent of otherwise normal appearing men. Karyotyping can uncover potentially transmissible genetic abnormalities in the infertile male including structural chromosomal disorders such as Klinefelter's (classic 47,XXY), mixed gonadal dysgenesis, chromosomal translocations and XYY syndromes. Finally, potential male infertility genes in animal models are reviewed. Without question, advances in clinical and basic research raise scientific and social issues that must be addressed.

Original languageEnglish (US)
Pages (from-to)1349-1365
Number of pages17
JournalPrenatal Diagnosis
Volume18
Issue number13
DOIs
StatePublished - Dec 1 1998
Externally publishedYes

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Intracytoplasmic Sperm Injections
Male Infertility
Azoospermia
Mixed Gonadal Dysgenesis
Chromosome Disorders
Genes
Karyotyping
Inheritance Patterns
Cystic Fibrosis Transmembrane Conductance Regulator
Genetic Translocation
Mutation
Regulator Genes
Natural History
Karyotype
Cystic Fibrosis
Animal Models
Therapeutics
Research

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynecology
  • Genetics(clinical)

Cite this

Genetic concerns for the subfertile male in the era of ICSI. / Kim, Edward; Bischoff, Farideh Z.; Lipshultz, Larry I.; Lamb, Dolores J.

In: Prenatal Diagnosis, Vol. 18, No. 13, 01.12.1998, p. 1349-1365.

Research output: Contribution to journalReview article

Kim, Edward ; Bischoff, Farideh Z. ; Lipshultz, Larry I. ; Lamb, Dolores J. / Genetic concerns for the subfertile male in the era of ICSI. In: Prenatal Diagnosis. 1998 ; Vol. 18, No. 13. pp. 1349-1365.
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