Solitary intracranial hypothalamic mass occurs rarely. The etiological diagnosis of solitary hypothalamus lesion is challenging and often unachievable. Although previous studies indicated that lesions affecting the hypothalamus often cause significant metabolic disorders, few reports about the metabolic disturbances of patients with solitary hypothalamic mass have been reported.

Twenty-five patients with solitary hypothalamus lesions who had been evaluated and treated in Huashan Hospital from January 2010 to December 2020 were retrospectively enrolled. The clinical manifestations, radiological features, endocrine and metabolic disorders, and pathology were analyzed.

The male to female ratio was 5/20. The median age of onset was 22 (19, 35) years old. The most common initial symptom was polydipsia/polyuria (19/25, 76.0%) and amenorrhea (9/20, 45.0%). A high prevalence of hypopituitarism of different axes was found, with almost all no less than 80%. Central hypogonadism (21/22, 95.5%) and central diabetes insipidus (19/21, 90.5%) were the top two pituitary dysfunctions. Conclusive diagnoses were achieved by intracranial surgical biopsy/resection or stereotactic biopsy in 16 cases and by examining extracranial lesions in 3 cases. The pathological results were various, and the most common diagnoses were Langerhans cell histiocytosis (7/19) and hypothalamitis (5/19). The mean timespan from onset to diagnosis in the 19 cases was 34 ± 26 months. Metabolic evaluations revealed remarkable metabolic disorders, including hyperlipidemia (13/16, 81.3%), hyperglycemia (10/16, 62.5%), hyperuricemia (12/20, 60%), overweight/obesity (13/20, 65.0%), and hepatic adipose infiltration (10/13, 76.6%).

Either surgical or stereotactic biopsy will be a reliable and relatively safe procedure to help to confirm the pathological diagnosis of solitary hypothalamic mass. Metabolic disorders were severe in patients with solitary hypothalamic mass. The management of such cases should cover both the treatment of the primary disease, as well as the endocrine and metabolic disorders

孤立性颅内下丘脑肿块很少发生。孤立性下丘脑病变的病因诊断具有挑战性，而且通常无法实现。尽管先前的研究表明影响下丘脑的病变通常会导致明显的代谢紊乱，但很少有关于孤立性下丘脑肿块患者代谢紊乱的报道。

回顾性纳入2010年1月至2020年12月在华山医院评估治疗的25例孤立性下丘脑病变患者。对其临床表现、影像学特征、内分泌代谢紊乱、病理进行分析。

男女比例为5/20。发病的中位年龄为 22 (19, 35) 岁。最常见的初始症状是烦渴/多尿（19/25, 76.0%）和闭经（9/20, 45.0%）。发现不同轴垂体功能减退的患病率很高，几乎都不少于80%。中枢性性腺功能减退症（21/22, 95.5%）和中枢性尿崩症（19/21, 90.5%）是前两种垂体功能障碍。16 例通过颅内手术活检/切除或立体定向活检以及通过检查 3 例颅外病灶获得了结论性诊断。病理结果多种多样，最常见的诊断是朗格汉斯细胞组织细胞增多症（7/19）和下丘脑炎（5/19）。19 例患者从发病到确诊的平均时间跨度为 34 ± 26 个月。代谢评估揭示了显着的代谢紊乱，

手术或立体定向活检将是一种可靠且相对安全的方法，有助于确认孤立性下丘脑肿块的病理诊断。孤立性下丘脑肿块患者的代谢紊乱很严重。此类病例的治疗应既包括原发疾病的治疗，也包括内分泌和代谢紊乱的治疗。