Transmission of Y chromosomal microdeletions from father to son through intracytoplasmic sperm injection

Shinji Komori1, Hiroshi Kato, Shin-ichiro Kobayashi

  • 1Laboratory of Developmental Biology and Reproduction, Institute for Advanced Medical Sciences, Hyogo, Japan. komor615@hyo-med.ac.jp

Insights

Intracytoplasmic sperm injection (ICSI) can transmit Y chromosomal microdeletions from fathers to sons. These microdeletions may even expand during transmission, highlighting the need for genetic counseling.

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Human Biology

Background:

  • Severe oligozoospermia in males is often linked to Y chromosomal microdeletions.
  • Intracytoplasmic sperm injection (ICSI) is a common treatment for male infertility.

Purpose of the Study:

  • To investigate the transmission of Y chromosomal microdeletions from fathers to sons through ICSI.
  • To analyze chromosomal changes in infants conceived via ICSI when fathers have Y chromosomal microdeletions.

Main Methods:

  • Chromosomal analysis was performed on three male infants and their fathers.
  • Fathers had severe oligozoospermia and Y chromosomal microdeletions.
  • Infants were conceived through intracytoplasmic sperm injection (ICSI).

Main Results:

  • Two infants inherited identical Y chromosomal microdeletions from their fathers.
  • The third infant inherited a Y chromosomal microdeletion that was longer than his father's.
  • Y chromosomal microdeletions were confirmed as transmissible via ICSI.

Conclusions:

  • Y chromosomal microdeletions are transmitted from fathers to sons through ICSI.
  • Microdeletion expansion may occur during paternal transmission via ICSI.
  • Genetic counseling is crucial for infertile couples with male Y chromosomal microdeletions considering ICSI.

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