To review the endocrine manifestations of primary mitochondrial disorders (PMD), their underlying mechanisms, and current and emerging diagnostic and treatment approaches, emphasizing the clinical implications.
Key Findings:
Diabetes is the most common endocrine manifestation of PMD, with significant implications for patient management.
Other endocrine issues include growth hormone deficiency, adrenal insufficiency, hypogonadism, and parathyroid dysfunction, which require tailored treatment strategies.
There is limited evidence linking thyroid dysfunction directly to PMD, indicating a need for further research.
Endocrine dysfunction incidence varies by specific mitochondrial disorder and affected endocrine organ, highlighting the complexity of PMD.
Interpretation:
Endocrine dysfunction is prevalent in PMD, necessitating high clinical suspicion for timely diagnosis, especially when endocrine symptoms present in patients with known PMD.
Limitations:
The review may not cover all PMD types or endocrine manifestations, potentially leading to incomplete understanding.
Emerging therapeutic options are still in development and face significant challenges before clinical application, which should be acknowledged.
Conclusion:
Endocrine complications in PMD require careful consideration for diagnosis and treatment, with ongoing research needed for effective therapies and a sense of urgency in addressing these challenges.
