Testicular feminization: Report of three cases in a family

Abstract

Case of the complete syndrome of testicular feminization were reported early in the 19th century, but it was in 1950 that Lawson recognized the etiology in a patient with amenorrhea and failing pubic and axillary hair, which was unresponsive to testosterone therapy. The prevalence of androgen resistance is estimated to be between 1:20.000 and 1:64.000 men and the complete form is the 3rd most common cause of primary amenorrhea. Testicular feminization is transmitted as X-linked recessive trait. In this article, we report on three siblings in a family with complete form of androgen insensitivity. The first case, the youngest of the siblings, was recognized by an inguinal hernia operation. The diagnosis was established chromosomal analysis, hormonal assays, sonography, and pathological examination after laparotomy.