hrp0086p2-p418 | Gonads & DSD P2 | ESPE2016
Shabir Iram
, Khurana Madan
, Joseph Angela
, Eunice Marumudi
, Mehta Manju
, Ammini Ariachery
Background: Androgen insensitivity syndrome (AIS) is a rare disease due to end organ resistance of androgens. AIS is commonly caused by the mutations of androgen receptor (AR) gene located on chromosome Xq11-12. The mode of inheritance is hemizygous, where males get severely affected and females remain as carriers.Objective and hypotheses: Here, we describe the Phenotype–Genotype correlation and gender identity of pubertal and post pubertal...