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.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
