Index of Suspicion: Medical Case Studies

The document presented three medical cases, with a primary focus on a 16-year-old girl with complete androgen insensitivity syndrome (CAIS), characterized by a 46,XY karyotype, female external genitalia, and primary amenorrhea due to androgen receptor defects. Key diagnostic indicators included the absence of a uterus and testes in the inguinal canal, with treatment involving gonadectomy, hormone replacement therapy, and psychological support. Additionally, a case of juvenile dermatomyositis in a boy was discussed, marked by symptoms such as heliotrope rash and muscle weakness, diagnosed via MRI and muscle biopsy. Treatment with steroids, methotrexate, and IV immunoglobulin led to significant improvement, underscoring the need for early aggressive treatment and the importance of differential diagnosis in complex presentations. The document also touched on the American Academy of Pediatrics' process for selecting clinical case presentations.