Congenital adrenal hyperplasia and multiple sclerosis: is there an increased risk of multiple sclerosis in individuals with congenital adrenal hyperplasia?
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 hypersecretion, 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).


METHODS
Case report.


METHODS
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.
Bergamaschi
Roberto
R
Multiple Sclerosis Center, Services of Neuroradiology and Neuroimmunology, and Department of Neurology, Neurological Institute C. Mondino, Via Mondino 2, University of Pavia, Via Mondino 2, 27100 Pavia, Italy.
Livieri
Chiara
C
Candeloro
Elisa
E
Uggetti
Carla
C
Franciotta
Diego
D
Cosi
Vittorio
V
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000175:diagnosis*; D000328:Adult; D005260:Female; D006801:Humans; D009103:Multiple Sclerosis / Q000150:complications / Q000175:diagnosis*; D012307:Risk Factors