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New Insights beyond Established Norms: A Scoping Review of Genetic Testing for Infertile Men.

Hamid KalantariMarjan SabbaghianParaskevi VogiatziGiovanni M ColpiMohammad Ali Sadighi Gilani
Published in: Urology journal (2024)
This review provides insights into managing male infertility. The presence of spermatozoa in ejaculation and successful surgical retrieval cannot be excluded for individuals with AZFb/AZFbc microdeletions. Screening for Y chromosome microdeletions is not needed for mosaic or classic KS. Only 1% of individuals with sperm concentration exceeding 1×106 sperm/mL and less than 5×106 sperm/mL exhibit AZF microdeletions; therefore, testing referral for such populations may need reassessment. Individuals with mosaic monosomy X karyotype and certain chromosomal anomalies should be referred for AZF deletion screening. These findings have implications for male infertility management and future research.
Keyphrases
  • polycystic ovary syndrome
  • copy number
  • primary care
  • current status
  • gene expression
  • skeletal muscle
  • middle aged
  • genetic diversity