Hypospadias is a condition in which the urethral orifice is located on the ventral side of the penis proximal to the tip of the glans, from the balanopreputial sulcus to the perineal area. The gene thought to play a role in the occurrence of hypospadias was the mastermind-like domain gene containing 1 (MAMLD1) or previously known as the CXorf6 gene (chromosome X opens reading frame 6). Aims: This study aims to look at the relationship between the gene mutation of MAMLD1 with hypospadias

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... e. Methods: This study is observational analysis with case-control as design studies. The subjects are male patients who diagnose as having hypospadias based on examinations conduct at the Department of Urology Dr. Hasan Sadikin Bandung. The study will be conduct in May 2018 -April 2019. DNA is taken from the skin of penile prepuce in both the case group and the control group. DNA extraction using the Homebrew method at the Eykman Laboratory, Padjadjaran University, Bandung. Mutation analysis will carried out by exon sequencing of MAMLD1 coding using the direct sequencing standard method at the Eykman Genetic Laboratory, Padjadjaran University, Bandung. The data that has been obtained will be analyzed using the chi-square correlation test method, if the chi square requirements are not met, then use the fisher test exact. Results: Average age of patients operated was between 4 -18 years old and the most frequent type of hypospadias was distal Type. No MAMLD1 polymorphisms were found in experimental group and control groups. Result of MAMLD1 gene sequencing showed there were no mutation in any sample. In other words, from all hypospadias and control patient who were sequenced, the mutation rate was 0%. Conclusion: From this study we concluded that MAMLD1 gene mutation were not different between hypospadias and control groups. We didn't found any MAMLD1 mutation ether in hyposphadia groups or control groups. There was no correlation between MAMLD1 gene mutation with hypospadias incidence.