Diabetes Mellitus, Deafness, Muscle Weakness and Hypocalcemia in a Patient with an A3243G Mutation of the Mitochondrial DNA.

Abstract

In a 54-year-old womanwith diabetes mellitus, hearing loss, muscle weakness and hypocalcemia, caused by idiopathic hypoparathyroidism, an A to G transition at the nucleotide position of 3243 (A3243G mutation) was found in the mitochondrial DNAfrom her leukocytes. Clinical features of diabetes mellitus and hearing loss in association with the A3243Gmutation are compatible with a diagnosis of maternally inherited diabetes and deafness (MIDD). Although hypoparathyroidism is rarely seen in MIDD,we consider that hypoparathyroidism in this patient is a possible phenotype caused by the A3243Gmutation of mitochondrial DNA.

Mitochondrial disease and endocrine dysfunction

“…Apart from Kearns-Sayre syndrome, hypoparathyroidism has been documented in one patient with MIDD with the classical m.3243A>G mutation [116].…”

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

“…Growth hormone deficiency has occasionally been found in individuals with MELAS syndrome [22]. Hypothyroidism, hypogonadotropic hypogonadism, and hypoparathyroidism have also been reported in individuals with MELAS syndrome [23][24][25].…”

Endocrine disorders in mitochondrial disease

“…In our experience, hypoparathyroidism is extremely rare in adult forms of mitochondrial disease. The paucity of case reports in the literature suggests likewise ( Tanaka et al, 2000 ). It seems most likely to occur in very severely affected patients who present in childhood with multisystem disease.…”