Mitochondrial diseases are a group of disorders caused by impairment of the mitochondrial respiratory chain. The genetic defect can be located on mitochondrial or nuclear DNA. Phenotypes are polymorphous and may range from pure myopathy to multisystem disorders, with variable age at onset, severity, and progression.
Many physicians, including many general endocrinologists and pediatricians with no specific interest in metabolic disorders, do not have in-depth knowledge of these diseases because of their rarity and complexity. However, in fact they are one of the most common groups of genetic metabolic disorders. In consideration of the frequent multisystem involvement, a wide range of medical specialists (including endocrinologists, pediatricians, neurologists, internists, general practitioners, cardiologists, audiologists, ophthalmologists, etc.) may first encounter these patients. An acute “clinical awareness” about this diagnosis is needed in order to initiate the correct diagnostic workup.
Possible metabolic/endocrine disturbances in patients with mitochondrial disorders include (but are not limited to) diabetes mellitus, hypothyroidism, hypogonadism, short stature, lactic acidosis, and multiple lipomatosis. Rarely, mitochondrial diseases may present with hypoparathyroidism. In this chapter, after a general overview on the basic concepts of the “mitochondrial medicine,” we review mitochondrial hypoparathyroidism, which in most cases is due to sporadic large-scale rearrangements of mitochondrial DNA.
Hypoparathyroidism Mitochondrial diseases mtDNA Parathyroid Single deletion
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