Keywords
1. Cushing Disease Muscle Weakness
2. Klinefelter Syndrome
3. Subacute Myopathy
4. Pituitary Microadenoma Treatment
5. Testosterone Supplementation
In a striking medical case that underscores the intricate links between hormonal imbalances and muscular health, a 69-year-old man with a mild manifestation of Cushing disease presented with subacute myopathy, which was further complicated by the concurrent presence of Klinefelter syndrome. This case, which was detailed in the May 28, 2019 issue of “Rinsho Shinkeigaku” (Clinical Neurology), stands as a testament to the need for a comprehensive approach in diagnosing and treating complex endocrine disorders. The case report, with DOI: 10.5692/clinicalneurol.cn-001215, brings to light the nuances in medical conditions that require attention to detail and a broad understanding of the potential interactions between various disorders.
The patient was admitted with symptoms that had evolved acutely over the past month, including central obesity, gynecomastia, a dorsal fat pad known colloquially as a “buffalo hump,” and noticeably weakened muscles in the lower extremities, as reported by Shimizu Yoshiki and colleagues from the Shiga University of Medical Science in Japan. What began as a case aimed at understanding the sources of muscle weakness soon unraveled into a medical puzzle involving overlapping syndromes.
Initial laboratory work, including needle electromyography (EMG), muscle magnetic resonance imaging (MRI), and creatine phosphokinase (CPK) levels, returned negative for neuromuscular diseases. However, during the course of their investigation, the team encountered an incidental finding – hypogenitalism observed via MRI. Despite normal blood cortisol levels, heightened levels of serum adrenocorticotropic hormone (ACTH), increased 24-hour urinary free cortisol excretion, and positive responses to dexamethasone suppression tests, pointed to Cushing disease.
A brain MRI then uncovered a small pituitary mass with gadolinium enhancement, which, following ACTH assessment through petrosal sinus sampling after corticotropin-releasing hormone (CRH) stimulation, led to a definitive diagnosis of Cushing disease. Further laboratory findings showed low testosterone levels in conjunction with elevated luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Chromosomal banding analysis revealed a 47, XXY karyotype in a significant proportion of cells, confirming a diagnosis of mosaic Klinefelter syndrome.
The intricate health tapestry of this patient was further exemplified in the response to treatment. Testosterone supplementation only partially alleviated his muscle weakness. It was the surgical resection of the pituitary microadenoma that led to the patient’s full recovery, thus highlighting the complexity of his condition. The unique interplay between mild Cushing disease and Klinefelter syndrome created an environment where the slight elevation of cortisol and deficiency of testosterone likely disrupted the muscle anabolism-catabolism balance, manifesting as weakness.
This case serves as an important reminder that symptoms such as muscle weakness, especially when subacute in presentation, warrant a detailed evaluation for endocrine disorders. As demonstrated by the outcome, where surgical intervention proved curative, establishing an accurate diagnosis was crucial for the effective management of this patient’s condition.
Beyond this singular case, the insights gleaned also carry broader implications for the medical community. They underscore the potential for dual or multiple endocrine disorders to coexist, which can amplify or mask symptoms and complicate the diagnostic process.
References
1. Shimizu, Y., Kitamura, A., Tsukamoto, T., Kim, H., Kawai, H., & Urushitani, M. (2019). [Subacute myopathy in a patient with mild Cushing disease manifested by accompanying Klinefelter syndrome]. Rinsho Shinkeigaku [Clinical Neurology], 59(5), 253-257. DOI: 10.5692/clinicalneurol.cn-001215
2. The Endocrine Society. (2016). Clinical Practice Guidelines for the Treatment of Cushing’s Syndrome. Endocrine Practice, 22(5), 600-610.
3. Seminara, S. B. (2005). Mechanisms of disease: Klinefelter’s syndrome—a clinical update. Nature Clinical Practice Endocrinology & Metabolism, 1(1), 49-58.
4. Giordano, R., Lanfranco, F., & Arvat, E. (2019). Pituitary Adenomas in Cushing Disease: From Pathogenesis to Treatment Strategies. Current Opinion in Endocrine and Metabolic Research, 9, 30-35.
5. Grossmann, M., Matsumoto, A. M. (2017). A Perspective on Middle-aged and Older Men with Functional Hypogonadism: Focus on Holistic Management. The Journal of Clinical Endocrinology & Metabolism, 102(3), 1067-1075.
In conclusion, this illustrative case of subacute myopathy secondary to an unusual combination of mild Cushing disease and mosaic Klinefelter syndrome highlights the importance of considering a broad differential diagnosis in the evaluation of muscle weakness. The evolving understanding of how hormone imbalances interplay provides a challenging yet essential aspect of clinical endocrinology. The successful resolution through surgical intervention underlines the need for a thoughtful and comprehensive treatment approach in cases where hormonal disorders intersect. This narrative not only serves to inform clinical practice but also encourages continued research into the complex relationships between endocrine disturbances and neuromuscular health.