Complete Androgen Insensitivity Syndrome and Literature Review

Abstract

Backgroung: Complete Androgen Insensitivity Syndrome\xa0(CAIS) has been reported since 1923, but in 1953 it became\xa0known as “testicular feminization”. It is a rare recessive\xa0genetic disorder linked to the X chromosome that results in\xa0different mutations in the androgen receptor. The main clinical\xa0presentation in childhood is the presence of bilateral inguinal\xa0hernia in phenotypically female subjects. Incidence of androgen\xa0 insensitivity syndrome in phenotypically females with inguinal\xa0hernia is estimated in 0.8% to 2.4%. This is a case report of\xa0complete androgen insensitivity syndrome and literature review\xa0of preoperative diagnostic methods.\xa0Case Summary: We present a 3 years and 6 months old child\xa0with female phenotype, born in Sao Paulo, Brazil which was\xa0diagnosed intraoperatively with complete androgen insensitivity\xa0syndrome, during inguinal hernia repair and present potential\xa0diagnostic alternatives that we consider viable options in order\xa0to avoid this kind of surprise during surgery.\xa0Conclusion: Investigation of CAIS should be standard in prepubertal\xa0girls with bilateral inguinal hernia, genetic techniques\xa0involving X chromatin or Y chromosome tests present the best\xa0choices.