Androgen insensitivity syndrome (testicular feminization): First case report from Jammu & Kashmir, India

The Androgen insensitivity (testicular feminization) syndrome is an X-linked recessive disorder where affected males despite having 46, XY karyotype, have some features of a female. 46, XY karyotype leads to the differentiation of testes ‘in utero’, but a defect in the gene coding for the androgen receptor results in complete insensitivity to circulating androgens. It is the most common cause for male pseudohermaphroditism; therefore, the case becomes important from genetic and medical viewpoint.