Endocrine components of Kearns-Sayre syndrome: underweight 21-year-old female patient with diabetes mellitus, primary amenorrhea, and secondary hyperparathyroidism

• Il’ya I. Amergulov
• Mariya G. Pavlova

Abstract

Kearns-Sayre syndrome is an inborn defect of metabolism caused by a mitochondrial DNA (mtDNA) deletion. In addition to neurological and cardiological manifestations such endocrine disorders as hypogonadism, diabetes mellitus, hypothyroidism, hypoparathyroidism, adrenal insufficiency, which have specific features, can be presented. This clinical case demonstrates specific features of diabetes mellitus and hyperparathyroidism due to vitamin D deficiency in a patient with malabsorption and low body mass index associated with inborn error of metabolism.

Keywords:Kearns-Sayre syndrome, secondary hyperparathyroidism, underweight, diabetes mellitus, clinical case

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