Modan-Moses D, Weintraub M, Meyerovitch J, Segal-Lieberman G, Bielora B
Pediatric Endocrinology Service, Sheba Medical Center, Tel-Hashomer, Israel.
J Endocrinol Invest. 2001 Sep;24(8):612-7. doi: 10.1007/BF03343902.
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 hypothalamicpituitary 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.
中枢神经系统（CNS）受累，尤其是下丘脑 - 垂体受累，是朗格汉斯细胞组织细胞增多症（LCH）的常见特征。CNS - LCH疾病的实际发病率尚不清楚，其自然病史也知之甚少。据报道，尿崩症（DI）是下丘脑 - 垂体受累最常见且描述详尽的表现（发生率高达50%）。高达20%的LCH患者存在垂体前叶功能障碍，且几乎均与DI同时发生。在本文中，我们描述了7例（6例女性，1例男性）以下丘脑 - 垂体受累为LCH主要特征患者的情况。4例患者在儿童期或青春期确诊，3例患者确诊时年龄超过18岁。我们的病例系列体现了LCH所致垂体功能减退的广泛表现，并显示出一些独特特征，包括与其他报道相比，促肾上腺皮质激素释放激素/促肾上腺皮质激素（CRH/ACTH）缺乏的发生率更高（4/7例患者），以及我们的2例患者出现严重肥胖。在我们所有患者中，采用化疗和糖皮质激素对LCH进行药物治疗后，内分泌功能均未改善。我们得出结论，垂体 - 下丘脑功能障碍是LCH的常见特征，因此所有LCH患者均应定期接受全面的内分泌评估。
