Department of Paediatrics and Paediatric Hematology/Oncology, University Children's Hospital, Klinikum Oldenburg AöR, Carl von Ossietzky University, Oldenburg, Germany.
Centre de Référence du Syndrome de Prader-Willi et autres syndromes avec troubles du comportement alimentaire, Hôpital des Enfants, CHU-Toulouse, Toulouse, France.
Nat Rev Dis Primers. 2022 Apr 21;8(1):24. doi: 10.1038/s41572-022-00351-z.
Hypothalamic syndrome (HS) is a rare disorder caused by disease-related and/or treatment-related injury to the hypothalamus, most commonly associated with rare, non-cancerous parasellar masses, such as craniopharyngiomas, germ cell tumours, gliomas, cysts of Rathke's pouch and Langerhans cell histiocytosis, as well as with genetic neurodevelopmental syndromes, such as Prader-Willi syndrome and septo-optic dysplasia. HS is characterized by intractable weight gain associated with severe morbid obesity, multiple endocrine abnormalities and memory impairment, attention deficit and reduced impulse control as well as increased risk of cardiovascular and metabolic disorders. Currently, there is no cure for this condition but treatments for general obesity are often used in patients with HS, including surgery, medication and counselling. However, these are mostly ineffective and no medications that are specifically approved for the treatment of HS are available. Specific challenges in HS are because the syndrome represents an adverse effect of different diseases, and that diagnostic criteria, aetiology, pathogenesis and management of HS are not completely defined.
下丘脑综合征（HS）是一种罕见的疾病，由下丘脑相关疾病或治疗引起，最常见于罕见的、非癌性鞍旁肿块，如颅咽管瘤、生殖细胞瘤、胶质瘤、Rathke 囊囊肿和朗格汉斯细胞组织细胞增生症，以及遗传神经发育综合征，如普拉德-威利综合征和视-隔发育不良。HS 的特征是顽固性体重增加，伴有严重的病态肥胖、多种内分泌异常和记忆力减退、注意力缺陷和冲动控制能力降低以及心血管和代谢紊乱风险增加。目前，这种疾病还没有治愈方法，但 HS 患者通常会使用针对一般肥胖的治疗方法，包括手术、药物治疗和咨询。然而，这些方法大多无效，也没有专门批准用于治疗 HS 的药物。HS 存在特殊挑战，因为该综合征代表了不同疾病的不良反应，而且 HS 的诊断标准、病因、发病机制和管理尚未完全确定。
