hrp0095p1-335 | Multisystem Endocrine Disorders | ESPE2022

Early endocrinological deficiencies can anticipate the diagnosis of mitochondrial diseases: phenotype evolution of a rare MT-TG gene variant

Mozzato Chiara , Carecchio Miryam , Salviati Leonardo , Zeviani Massimo , Guazzarotti Laura

Mitochondrial diseases are multisystemic disorders which often involve endocrine system, as defective oxidative phosphorylation can lead to decreased hormones production or secretion and all steroid hormones are synthesized in the mitochondria. Endocrine dysfunctions can therefore represent the initial symptoms of these pathologies and the incidence of various endocrinopathies varies between different mitochondrial disease. Diabetes mellitus is the most frequently described en...