Síndrome de insensibilidad a los andrógenos familiar

Androgen insensitivity syndrome is the most frequent of the sexual development disorders with 46,XY karyotype and female phenotype. This syndrome is due to a mutation in the androgen receptor gene, which lies on the X-chromosome. Diagnosis is usually made in childhood due to inguinal hernias or during puberty due to primary amenorrhea. Gonadal extirpation is required because of the risk of malignant transformation. We present a 25-year-old patient with primary amenorrhea diagnosed with androgen insensitivity syndrome, who reported four relatives with the same diagnosis.