Adrenoleukodystrophy in a patient with primary hypocorticism
AbstractX-linked adrenoleukodystrophy (X-ALD) was first described by S. HaberfeLd, H. Spieler in 1910. X-ALD is a rare hereditary disease with X-linked recessive inheritance; its development is due to the different mutation variants of the ABCD1 gene (Xq28), which is responsible for the synthesis of the very long-chain fatty acid transfer protein (ALDP) into peroxisomes. The toxic effects of very long chain fatty acids on the nervous system and adrenal cortex leads to a characteristic combination of neurological symptoms and primary hypocorticism.
Depending on the age of manifestation and the clinical feature, there are several clinical forms of X-ALD. The diagnosis is established by the clinical features, the levels and ratios of various types of very long-chain fatty acids and genetic investigation.
The article gives an example of adrenomyeloneuropathy, the most frequent form of X-ALD in adults, which is accompanied by a complete clinical manifestation and primary hypogonadism. Progression of neurological deficit in the presented patient cannot be ruled out, which requires dynamic observation.
Keywords:adrenoleukodystrophy, hypocorticism, hypogonadism, neurological deficit
For citation: Volkova A.R., Lisker A.V., Ostrouchova E.N., Semikova G.V., Dygun O.D., Mozgunova V.S. Adrenoleukodystrophy in a patient with primary hypocorticism. Endokrinotogiya: novosti, mneniya, obuchenie [Endocrinology: News, Opinions, Training]. 2019; 8 (1): 63-6. doi: 10.24411/2304-9529-2019-11007.