title: [Complete androgen insensitivity syndrome: diagnosis and clinical characteristics].
abstract: 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.
authors.affiliation: Centro Nacional de Genética Médica.
authors.forename: Andrea
authors.initials: A
authors.lastname: Solari
authors.forename: Boris
authors.initials: B
authors.lastname: Groisman
authors.forename: María P
authors.initials: MP
authors.lastname: Bidondo
authors.forename: Constanza
authors.initials: C
authors.lastname: Cinca
authors.forename: Liliana
authors.initials: L
authors.lastname: Alba
mesh_terms: D000293:Adolescent; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male