Late Diagnosis of Klinefelter Syndrome: Overcoming Phenotypic Variability and Diagnostic Oversights

This document discusses a case of Klinefelter syndrome (KS) diagnosed in a 27-year-old male, emphasizing the challenges in recognizing this underdiagnosed condition due to phenotypic variability and diagnostic oversights. The patient presented with low testosterone, fatigue, low libido, and erectile dysfunction, and was initially misattributed to obesity. Physical examination revealed critical findings such as gynecomastia, non-palpable testicles, and micropenis, leading to a diagnosis confirmed by a 47 XXY karyotype. The case highlights the importance of physical examinations in diagnosing KS, which is associated with increased risks of osteoporosis, cardiovascular disease, and psychosocial challenges. Raising awareness and focusing on physical examinations can improve diagnostic timing and reduce complications.