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Journal Article
Review
Neuroendocrine manifestations of Erdheim-Chester disease.
Neuroendocrine manifestations are common in Erdheim-Chester disease (ECD) patients. ECD is a rare non-Langerhans form of histiocytosis with multisystemic infiltration. The involvement of the hypothalamo-pituitary axis is common and central diabetes insipidus (CDI) is one of the most common endocrine manifestations in ECD patients. CDI is the first manifestation of ECD in 25%-48% of the cases. Suprasellar region extension, due to the infiltration of ECD lesions, can cause neurologic manifestations by mass effects, such as headache, visual disturbance, and cranial nerve palsies. Recent studies have revealed that disorders affecting anterior pituitary hormones are common in ECD patients. Secondary adrenal insufficiency, secondary hypothyroidism, (adult) growth hormone deficiency, hypogonadotropic hypogonadism, hyperprolactinemia, and hypoprolactinemia can develop as the neuroendocrine manifestations of ECD. Since the symptoms of anterior pituitary hormone deficiencies tend to be nonspecific, the diagnosis of anterior pituitary hormone dysfunctions can be delayed. Some anterior pituitary dysfunctions such as adrenocorticotropic hormone and/or thyroid-stimulating hormone deficiencies can be life-threatening without adequate hormone supplementation therapies. An endocrinological evaluation of the function of the pituitary gland should be performed at the initial diagnosis of ECD. It is important to recognize that endocrine dysfunctions can develop later during the follow-up of ECD.
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