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Abstract
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. To identify mutations in the gene which control the androgen receptor in patients with androgen insensitivity. 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. 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 %). 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