hrp0086p2-p418 | Gonads & DSD P2 | ESPE2016

Phenotype, Genotype and Gender Identity in Pubertal and Post-Pubertal Patients with Androgen Insensitivity Syndrome

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...