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

This case study highlights the challenges in diagnosing Klinefelter syndrome (KS) in adulthood, emphasizing the importance of early detection due to associated metabolic, cardiovascular, and psychosocial comorbidities. A 27-year-old male with low testosterone, fatigue, and other symptoms was eventually diagnosed with KS after a detailed endocrine evaluation revealed non-palpable testes and micropenis, despite initial misattribution of symptoms to obesity. The study underscores the phenotypic variability of KS and the critical role of thorough physical examinations in timely diagnosis. Raising awareness and improving diagnostic practices can help reduce delays and associated health risks.