Primer Amenoreli Bir Vakada Nadir Bir Androjen Reseptör Gen Mutasyonu

Androgen insensitivity syndrome (AIS) is an X-linked recessive disorder associated with incompatible
genotypes and phenotypes caused by mutations in the androgen receptor (AR) gene is located at
Xq11-q12. We have detected a rare mutation in the AR gene that has not been reported in the literatüre.
Clinical findings are female external genitalia at birth, abnormal secondary sexual development in puberty,
infertility in individuals with a 46, XY karyotype as typically characterized AIS. In our case, a 17-yearold
female phenotype presented with primary amenorrhoea and predominantly female external genitalia.
The patient had 46,XY with female phenotype. We detected a missense rare mutation in the first exon as
NM000044 c.5A>G variant was not found in ExAc or 1000genome population database, however, ıt was.
Substituting at position 2 to glutamic acid exchange to glycine. Glutamic acid is a polar amino acid with
a negative charge while glycine has stayed in a nonpolar hydrophobic group. So, we thought that the
mutation may cause a physical defect in protein and the native three-dimensional structure of the AR gene