Tehran University of Medical Sciences Journal of Family and Reproductive Health 1735-8949 15 2 2021 06 20 130 135 Laura González- Teshima School of Medicine, Valle University, Cali, Colombia César Payán-Gómez Department of Biology, Faculty of Natural Sciences, Rosario University, Bogotá, Colombia Wilmar Saldarriaga School of Basic Sciences, Valle University, Cali, Colombia AND School of Medicine, Valle Hospital, Valle University, Cali, Colombia 2020 11 05 2021 03 13 Objective: To evidence the need for screening fragile X syndrome (FXS) in egg donors in assisted reproduction protocols. Case report: This is the report of a boy with FXS who inherited the mutated allele from an ovule donated by the mother´s sister through an assisted reproduction protocol. Identifying premutation (PM) carriers of FXS amongst gamete donors isn’t part of the obligatory genetic analysis for donors and is only considered by most of the in vitro fertility societies and guidelines as part of the extension screening tests. Conclusion: It is cost-effective to do pre-conceptional screening for the PM or full mutation (FM) of the FMR1 gene affected in FXS in every woman undergoing assisted reproductive methods, including gamete donors even without a positive family history of intellectual disabilities. This case supports the need of rethinking the guidelines on the necessary gamete donor screening tests in assisted reproduction protocols. https://jfrh.tums.ac.ir/index.php/jfrh/article/view/1598 https://jfrh.tums.ac.ir/index.php/jfrh/article/download/1598/564