A Case with XXXX Syndrome Who Was Incidentally Diagnosed during Examination for Suspected Post-Human Papillomavirus Vaccination Syndrome

A 19-year-old Japanese woman was referred to us with the complaints of arthralgia and meralgia following human papillomavirus (HPV) vaccination. She received HPV vaccination at the age of 15 years and three years later, she developed intermittent arthralgia, meralgia, and numbness in limbs. There were no orthostatic dysregulation symptoms. She had hypertelorism, and brachydactyly in both the hands, and revealed mild cubitus varus deformity with lateral instability. X-ray examination disclosed hypoplasia of the humeral capitellum and trochlea in elbow joints. G-banded chromosomes were shown to be composed of 48, XXXX. She was, therefore, diagnosed with XXXX syndrome, which explained the reason for her limb symptoms. Although some girls with HPV vaccination complain of various symptoms including limb pain and numbness, exact underlying cause of these symptoms needs to be ascertained carefully for reaching a final diagnosis.