Klinefelter Syndrome in a Patient with Type 1 Diabetes and Growth Arrest: An Atypical Combination

Abstract

Klinefelter Syndrome (KS) occurs in about 1 in 1,000 males. Affected individuals with this condition have an additional X chromosome or 47, XXY. Clinical findings are usually not evident at birth and are non-specific such as tall stature, learning disabilities and gynecomastia during childhood. Diagnosis is commonly made in adulthood when they present with infertility or gynecomastia. Tall stature is also one of the most common findings in affected individuals. Patients are also at increased risk of developing autoimmune conditions such as type-1 diabetes, thyroiditis and rheumatological disorders. We present a case of a patient with type-1 diabetes subsequently diagnosed with Klinefelter syndrome after presenting with growth arrest. Physical exam revealed testicular volume of 5ml bilaterally with sexual maturity rating of 5. This emphasizes the importance of pubertal exam in every adolescent patient.