Congenital adrenal hyperplasia and multiple sclerosis: Is there an increased risk of multiple sclerosis in individuals with congenital adrenal hyperplasia?

Roberto Bergamaschi, Chiara Livieri, Elisa Candeloro, Carla Uggetti, Diego Franciotta, Vittorio Cosi

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis, generally caused by a total or partial deficiency in 21-hydroxylase, due to a deletion of or mutations in the CYP21 gene (the gene that codes for 21-hydroxylase). Impaired cortisol biosynthesis results in corticotropin hypersecution, which leads to overproduction of intermediate metabolites and androgens. Objective: To describe for the first time, to our knowledge, a patient with CAH and multiple sclerosis (MS). Design: Case report. Patient: A 22-year-old woman, diagnosed at birth as having a salt-losing 21-hydroxylase deficiency, had sudden visual loss in the right eye and pyramidal, sensory, and cerebellar signs. Repeated brain magnetic resonance images showed focal white matter lesions in periventricular areas, the corpus callosum, the cerebellum, and the brainstem. A cerebrospinal fluid examination revealed several oligoclonal bands. Thereafter, she had 2 relapses, characterized by ataxia and diplopia, and recovered after corticosteroid treatment. Results: The reported case fulfills the diagnostic criteria for CAH and MS. Conclusions: Some clues suggest that the association between CAH and MS could be nonincidental: a possible MS susceptibility locus is on chromosome 6p21, on which the CYP21 gene is located; the CYP21 gene and the CYP21P pseudogene alternate in tandem with the C4 genes (the genes that code for the homonym complement protein) (C4AQ0 is particularly frequent in patients with relapsing-remitting MS); and, in previous studies, brain magnetic resonance imaging showed T2-hyperintense focal areas in the white matter of CAH patients. Our observation should alert neurologists to the presence of signs and symptoms suggestive of late-onset CAH in MS patients and, in turn, endocrinologists to the appearance of neurological signs and symptoms in CAH patients.

Original languageEnglish
Pages (from-to)1953-1955
Number of pages3
JournalArchives of Neurology
Volume61
Issue number12
DOIs
Publication statusPublished - Dec 2004

ASJC Scopus subject areas

  • Neuroscience(all)

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