Abstract
Translocation of sex/autosome chromosomes is uncommon, but they have a stronger impact on fertility than autosome/autosome translocation.
Y/autosome translocation is associated with azoospermia in 80% of cases. To our knowledge, there have been only eight cases reported of a balanced reciprocal (Y;16) translocation associated with male infertility.Here we report an infertile man with azoospermia who has a reciprocal translocation t(Y;16) (q12; p13.2).
A 38-year-old Saudi medically free male presented with primary infertility and azoospermia for six years. He has a positive family history of male infertility. Physical examination was unremarkable. Investigations showed normal hormonal panel and azoospermia. He has a male karyotype with a reciprocal chromosome Y,16 translocation. Histopathology report of bilateral testicular sperm extraction (TESE) revealed most tubules show early maturation arrest and few show either Sertoli-cell only syndrome or are completely hyalinized and atrophic.
This case illustrates a rare cause of non-obstructive azoospermia in a male with chromosome Y,16 translocation as a result of a meiotic arrest. Medical practitioners should be aware of the genetic abnormalities of male patients who present with primary infertility. Karyotyping has the capability to diagnose genetic abnormalities in this patient.