Y chromosome microdeletions: implications for assisted conception

David S Cram, Elissa Osborne and Robert I McLachlan
Med J Aust 2006; 185 (8): . || doi: 10.5694/j.1326-5377.2006.tb00641.x
Published online: 16 October 2006

Some boys conceived through artificial techniques may inherit their fathers’ subfertility

Clinical assessment of couples unable to conceive naturally often identifies causative or contributory factors associated with the male partner. Male infertility affects one in 20 men, accounts for a third of all infertility, and is a cofactor in over half of assisted reproductive technology (ART) treatments worldwide.1 Primary spermatogenic failure (SgF, also termed idiopathic infertility) accounts for more than half the cases, yet, in most of these cases, its cause is unknown.1 In clinical practice, classification of SgF is based on semen parameters (describing combinations of poor sperm number, motility or function) and reflects an ignorance of the pathogenesis.2 However, recent research has determined that up to 15% of SgF is related to at least six known Y chromosomal deletions, with implications for genetic testing, counselling, assisted reproduction and even subsequent male offspring conceived by ART.

  • David S Cram1,2
  • Elissa Osborne1
  • Robert I McLachlan3

  • 1 Monash IVF Business Centre, Epworth Hospital, Melbourne, VIC.
  • 2 Monash Immunology and Stem Cell Laboratories, Faculty of Medicine, Monash University, Melbourne, VIC.
  • 3 Department of Obstetrics and Gynaecology, Faculty of Medicine, Nursing and Health Sciences, Prince Henry’s Institute of Medical Research, Melbourne, VIC.


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