A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

What is already knoWn on this topic?What this study adds?DNA sequence analysis revealed a novel hemizygous mutation p.T576I (c.1727C>T) in the AR gene.Partial androgen insensitivity syndrome typically presents with micropenis, perineoscrotal hypospadias, and a bifid scrotum with descending or undescending testes and gynecomastia at puberty.It is an X-linked recessive disorder resulting from mutations in androgen receptor (AR) gene.In approximately 50% of cases, a mutation in AR gene cannot be detected.