Male Infertility in Robertsonian Translocation: A Case Report

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...

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Bibliographic Details
Published in:	The American journal of case reports Vol. 21; pp. e921616 - e921616-6
Main Authors:	Almesned, Razan K, Alsuhaibani, Shaheed S, Alali, Hamed J, Qubbaj, Wafa A, Al Hathal, Naif K
Format:	Journal Article
Language:	English
Published:	United States International Scientific Literature, Inc 15-05-2020
Subjects:	Adult Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 14 Fertilization in Vitro - methods Genetic Counseling - psychology Humans Infertility, Male - genetics Informed Consent Male Semen Analysis Translocation, Genetic
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Summary:	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.
Bibliography:	Funds Collection Authors’ Contribution Conflict of interest: None declared Data Interpretation Literature Search Data Collection Study Design Manuscript Preparation Statistical Analysis
ISSN:	1941-5923 1941-5923
DOI:	10.12659/AJCR.921616