MULTIPLE ENDOCRINE INVOLVEMENT IN 2 PEDIATRIC-PATIENTS WITH KEARNS-SAYRE-SYNDROME

We present 2 cases of progressively severe Kearns-Sayre syndrome (KSS) with multisystemic affectation and atypical endocrine and cutaneous f eatures, a 16-year-old patient (case 1) and a 5-year-old patient (case 2). Endocrine studies showed high glucose and glycohemoglobin concent rations with normal pancreatic reserve and low values of ACTH, cortiso l, LH and FSH in case 1. Normal ACTH values with low concentrations of cortisol and PTH were observed in case 2. Southern blot analysis and PCR amplification revealed the presence of a deletion of approximately 6.7 kb in the mitochondrial DNA of both patients. Endocrinological st udies suggest that adrenal insufficiency may be an additional feature of KSS that worsens the clinical evolution of the patients. In spite o f a normal pancreatic reserve, insulin therapy should be considered in patients with diabetes mellitus of mitochondrial origin.