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  • Title: [Complete androgen insensitivity syndrome: diagnosis and clinical characteristics].
    Author: Solari A, Groisman B, Bidondo MP, Cinca C, Alba L.
    Journal: Arch Argent Pediatr; 2008 Jun; 106(3):265-8. PubMed ID: 18695842.
    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.
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