Details

Autor(en) / Beteiligte

• Solari, Andrea
• Groisman, Boris
• Bidondo, María P
• Cinca, Constanza
• Alba, Liliana

Titel

Complete androgen insensitivity syndrome: diagnosis and clinical characteristics

Ist Teil von

• Archivos argentinos de pediatría, 2008-06, Vol.106 (3), p.265-268

Ort / Verlag

Argentina

Erscheinungsjahr

2008

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.