Hypopituitarism in Langerhans cell histiocytosis: Seven cases and literature review

Central nervous system (CNS) involvement and, in particular, hypothalamic-pituitary involvement are well described features of Langerhans cell histiocytosis (LCH). The actual incidence of CNS-LCH disease is unknown and the natural history is poorly understood. Diabetes insipidus (DI) is reported to be the most common and well described manifestation of hypothalamic-pituitary involvement (up to 50%). Anterior pituitary dysfunction has been reported in up to 20% of patients with LCH, and occurs almost exclusively concurrently with DI. In the current paper we describe our experience with 7 patients (6 females and 1 male) in whom hypothalamic-pituitary involvement was a major feature of LCH. Diagnosis was made in 4 patients during childhood or adolescence, and 3 patients were over 18 years old at the time of diagnosis. Our series exemplifies the wide spectrum of LCH-induced hypopituitarism, and demonstrates some unique features, including a higher incidence of CRH/ACTH deficiency compared to other reports (4/7 patients), and massive obesity in 2 of our patients. Endocrine function was not improved in any of our patients following medical treatment of LCH with chemotherapy and glucocorticoids. We conclude that pituitary-hypothalamic dysfunction is a common feature of LCH, and therefore all LCH patients should undergo a thorough endocrine evaluation periodically. (J. Endocrinol. Invest. 24: 612-617, 2001) (C) 2001, Editrice Kurtis.