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The XX Male SRY Syndrome: An Association With Autoimmunity?: Case Report and Review of the Literature
The Endocrinologist, 03/23/09

Wachter AB et al. - The authors describe an adult patient with idiopathic hypogonadism who was found on chromosomal analysis to have a 46, XX karyotype and the SRY (Sex-determining Region Y) gene. The genetic basis of the XX male syndrome is described, and the literature of the wide range of cases is discussed. Because this patient also had an autoimmune disorder (ie, Graves disease), and recent literature has shown that skewed X inactivation patterns are present in both the XX male syndrome and Graves disease, they propose this as a pathogenetic link between the 2 disorders.

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