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