A case of primary amenorrhea with 46,XY Karyotype: Androgen insensitivity syndrome (AIS)

Abstract

We studied a proband of 23 years female, who had history of primary amenorrhea and was diagnosed with Partial androgen insensitivity syndrome (PAIS), an X-linked disorder caused by mutation in androgen receptor gene. Karyotyping was conducted by analysis of G-banded chromosomes using heparinized peripheral blood sample. The molecular study using PCR for confirmation of the presence of Y chromosome (SRY gene) was performed. Based on the clinical findings, hormonal profile and USG report of the proband, it was confirmed that the proband is diagnosed with PAIS a type of AIS which was further counseled for the better future.