Abstract

A.H., a 15-year-old boy, presents for an annual health maintenance visit. The child and family have struggled with his speech, language, and learning issues since the age of 3 years. The patient has recently been treated with antidepressants and mood stabilizers because of an uneven temperament ranging from extreme passivity and sadness to outward aggression. He is very tall for his age, has limited upper body strength, and complains of persistent fatigue. This patient exhibits signs and symptoms of a frequently undiagnosed genetic condition. A karyotype reveals a supernumerary X chromosome. A.H. is a male with 47 XXY chromosomes, and the diagnosis of Klinefelter syndrome is confirmed.

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