Endocrine Abstracts

MELAS syndrome is a progressive neurodegenerative disorder characterized by a combination of mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes and endocrine disorders. The frequency of hypoparathyroidism in MELAS syndrome is less than 0.5%. A 22-year-old female was admitted to our center due to episodes of seizures. At admission her height was 147.5 cm, weight 30.5 kg, BMI 13.8 kg/m². She reported whole life weight and growth retardation, hearing loss since childhood but normal menses since 12 years old. The patient resembles her mother. Investigation at the time of admission revealed Chvostek’s and Trousseau’s symptoms, serum calcium 2.05 mmol/l (2.10–2.55), phosphate 1.54 mmol/l (0,74–1,52), parathyroid hormone 13.9 pg/ml (15–65), calcium in 24 h urine 0.63 mmol/24 h (2.5–8), HbA1c 5.5%, C-peptide 1.26 ng/ml (1.1–4.4), plasma lactate 3.21 mmol/l (0–2.4), TSH 0.278 mU/l (0.25–3.5). A month before she had been hospitalized unconscious with stroke like symptoms to a neurological department, where she was also diagnosed with diabetes. (hyperglycemia 20 mmol/l) and hypocalcemia (Ca²⁺ 0.96 mmol/l (1.03–1.29)). According to the results of CT scan, basal ganglia calcification was found. MELAS syndrome was confirmed by the presence of mutations in mitochondrial DNA: m. 3243A>G tRNA-Leu. All signs and symptoms were controlled on alfacalcidol 0.5 μg, 1000 mg of calcium carbonate, cholecalciferol 2000 IU daily and 6 IU of insulin glargine. Conclusion: hypoparathyroidism or diabetes at a young age due to MELAS syndrome seems to be more easily controlled than in sporadic cases or perhaps even partly reversible.