Mutational Analysis of Androgen Receptor Gene in Two Families with Androgen Insensitivity.

Background: Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor () gene causing end-organ resistance to the androgenic hormone.

Subjects And Methods: Genetic studies were carried out in two families by karyotype and targeted exome sequencing of the gene.

Results: Two novel missense mutations were identified, p.