Síndrome de insensibilidad completa a los andrógenos: diagnóstico y características clínicas

complete androgen insensitivity syndrome (cais) is a genetic disease caused by mutations in the androgen receptor gene. cais patients are individuals with a 46, xy karyotype. the phenotype consists in female external genitalia, short vagina, absent mullerian structures, and abdominal, inguinal or intralabial testes. our aim is to describe a group of cais patients in our centre and identify the difficulties in the diagnosis. the amount of patients with inguinal hernia in childhood was remarkable (83%). interestingly, the diagnosis was suspected later when patients presented primary amenorrhea. cais must be suspected every time a female child shows inguinal hernia. early diagnosis is very important for a correct genetic counseling.