Complete Androgen Insensitivity Syndrome Diagnosed in Infancy: A Case Report

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder characterized by a 46 XY karyotype and phenotypically female external genitalia due to complete end-organ resistance to androgens. Most cases are diagnosed in adolescence during evaluation of primary amenorrhea. Diagnosis in infancy is less common and usually occurs when inguinal masses or hernias are evaluated. We report the case of a 6-month-old infant with CAIS who presented with female-like external genitalia and inguinal swelling, highlighting the diagnostic approach, differential diagnoses, and clinical management considerations. Key words: Androgen insensitivity syndrome, 46 XY DSD, inguinal hernia, karyotype