Background: Androgen Insensitivity Syndrome (AIS) is a common disorder of sexual development, which means that a person with male (XY) chromosomes does not respond to testosterone in the usual way. Objective: To identify mutations in the gene which control the androgen receptor in patients with androgen insensitivity. Methods: Across sectional study conducted in the Diabetes Endocrine and Metabolism Pediatric Unit (DEMPU) at Cairo University Children's Hospital. Thirty one patients were recruited for this study; 24 were undermusclinized male infants and children with good testosterone response to HCG (queerly partial androgen insensitivity syndrome); while the remaining seven patients were queerly complete androgen insensitivity syndrome. Results: Only one patients out of 24 queerly PAIS patients who had homozygous pathogenic variant in exon 4 of AR gene. Mutations was more common in CAIS patients as 3 out of seven patients ( 42.9 %) had pathogenic variant in exon 3 and another CAIS had pathogenic variant in exon 4 ( 14.3 %). Conclusion: Mutations in exon 3 and 4 is not common in Egyptian patients with partial androgen insensitivity syndrome; however pathogenic variant in exon 3 and 4 is more common in CAIS patients.