Reciprocal Translocation T(Y;16) in a Male Patient With Non-obstructive Azoospermia: A Case Report and Literature Review.
| Autor: | Alharbi YH; Faculty of Medicine, Umm Al-Qura University, Makkah, SAU., Alqurashi TM; Faculty of Medicine, Umm Al-Qura University, Makkah, SAU., Azher ZA; Department of Medical Genetics, Umm Al-Qura University, Makkah, SAU., Baazeem AS; Department of General Surgery, Umm Al-Qura University, Makkah, SAU. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2022 Aug 24; Vol. 14 (8), pp. e28365. Date of Electronic Publication: 2022 Aug 24 (Print Publication: 2022). |
| DOI: | 10.7759/cureus.28365 |
| Abstrakt: | 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. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2022, Alharbi et al.) |
| Databáze: | MEDLINE |
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