Dysfunction of the hypothalamic-pituitary system in mitochondrial encephalomyopathies.
We investigated endocrine function in patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), myoclonus epilepsy associated with ragged-red fibers (MERRF), and chronic progressive external ophthalmoplegia (CPEO). Hypothalamic-pituitary function was impaired in all three patients with MELAS or MERRF, but none of four with CPEO. A MELAS patient with dwarfism and impaired adolescent development had decreased growth hormone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH). A MERRF patient had emaciation and low adrenocorticotropin. A patient with mitochondrial encephalomyopathy transitional between MELAS and MERRF showed delayed, blunted LH and FSH response to LH-releasing hormone stimulation. We concluded that patients with mitochondrial encephalomyopathies, especially MELAS or MERRF, are likely to have hypothalamic-pituitary dysfunction.
Ohkoshi
N
N
Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan.
Ishii
A
A
Shiraiwa
N
N
Shoji
S
S
Yoshizawa
K
K
D000328:Adult; D002648:Child; D005260:Female; D005640:Follicle Stimulating Hormone / Q000378:metabolism; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology*; D007986:Luteinizing Hormone / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000503:physiopathology*
D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone