Endocrine manifestations of Erdheim-Chester disease (a distinct form of histiocytosis).

Abstract

Erdheim-Chester disease (ECD) is a disorder of unclear aetiology, characterized by exuberant histiocyte proliferation and a variable clinical course. We report the case of a woman with multi-organ involvement secondary to ECD. Central diabetes insipidus (CDI), hyperprolactinaemia, gonadotropin insufficiency and decreased insulin-like growth factor I levels were present, suggesting hypothalamic-pituitary dysfunction. The high-intensity signal of the posterior pituitary on T1-weighted images was absent on magnetic resonance imaging, but no sellar mass lesions or stalk thickening were apparent. Additionally, our patient had bilateral adrenal enlargement. Even though ECD is a rare cause of neuroendocrine dysfunction or adrenal enlargement, it should be considered in patients with these disorders in the setting of multiorgan disease.