Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center Experience

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Primary mitochondrial disorders (MD) can manifest solely through endocrine abnormalities.
• Evaluating the endocrinological profile of MD patients is essential for early diagnosis and management.

Purpose of the Study:

• To investigate the spectrum of endocrinological characteristics in a pediatric cohort with mitochondrial disease (MD).
• To determine the prevalence and types of hormonal deficits associated with specific genetic causes of MD.

Main Methods:

• Retrospective analysis of pediatric patients diagnosed with MD at a single center.
• Categorization based on genetic abnormalities (nuclear DNA mutations).
• Collection of auxologic data, pubertal development, and hormonal profiles.

Main Results:

• 46% of the 26 patients were female; 57.6% had MD due to nuclear DNA mutations.
• Common MD syndromes included Leigh syndrome, Leber’s Hereditary Optic Neuropathy, MELAS, and Kearns-Sayre syndrome.
• 23% of patients exhibited hormonal deficits, including ovarian insufficiency, adrenal insufficiency, hypothyroidism, and diabetes mellitus.

Conclusions:

• Pediatric patients with MD, especially those with known genetic abnormalities, are at high risk for developing hormonal deficits.
• Endocrine dysfunction can be a primary, early indicator of underlying mitochondrial disease.