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Medical Science Monitor Basic Research


Male Infertility in Robertsonian Translocation: A Case Report

Challenging differential diagnosis, Unusual setting of medical care, Rare disease

Razan K. Almesned, Shaheed S. Alsuhaibani, Hamed J. Alali, Wafa A. Qubbaj, Naif K. Al Hathal

Saudi Arabia College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

Am J Case Rep 2020; 21:e921616

DOI: 10.12659/AJCR.921616

Available online: 2020-04-11

Published: 2020-05-15


BACKGROUND: Translocations are the most common type of chromosomal structural anomalies. In balanced translocations, there is not an obvious loss of genetic material; they are usually phenotypically normal adults who present with reproductive issues. Male carriers of Robertsonian (ROB) translocation can have infertility and are shown to have abnormal semen analysis. Some patients have positive sperms in the ejaculate. Therefore, fertility management can be offered to couples to achieve pregnancy and delivery of healthy neonates.
CASE REPORT: We present 2 cases of 34- and 35-year-old males who presented to our tertiary care hospital because of primary infertility. Semen analysis showed nonobstructive cryptozoospermia and azoospermia, respectively. Genetic tests revealed ROB translocation (13;14). Fertility treatment was offered to both couples.
CONCLUSIONS: Males with ROB translocation can have positive sperms in the ejaculate. A multidisciplinary approach should be offered to the couples to help them achieve clinical pregnancy, reduce the risk of miscarriage, and increase the rates of delivery of healthy neonates.

Keywords: Infertility, Male, semen analysis, Translocation, Genetic