Abstract

SOLARI, Andrea et al. Complete androgen insensitivity syndrome: diagnosis and clinical characteristics. Arch. argent. pediatr. [online]. 2008, vol.106, n.3, pp.265-268. ISSN 0325-0075.

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.

Keywords : Complete androgene insensitivity syndrome; Inguinal hernia.

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