Department of Endocrinology and Metabolism, Huashan Hospital, Fudan University, Shanghai, China.
Department of Radiology, Huashan Hospital, Fudan University, Shanghai, China.
Front Endocrinol (Lausanne). 2021 Sep 16;12:693669. doi: 10.3389/fendo.2021.693669. eCollection 2021.
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见。孤立下丘脑病变的病因诊断具有挑战性，通常无法实现。尽管先前的研究表明，影响下丘脑的病变常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。
回顾性分析 2010 年 1 月至 2020 年 12 月在华山医院就诊并接受治疗的 25 例孤立性下丘脑病变患者的临床症状、影像学特征、内分泌和代谢紊乱及病理情况。
男女比例为 5/20。发病中位年龄为 22（19，35）岁。最常见的首发症状为多饮/多尿（19/25，76.0%）和闭经（9/20，45.0%）。发现不同轴系的垂体功能减退症高发，几乎均有 80%以上。最常见的垂体功能障碍为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%）。16 例患者通过颅内手术活检/切除或立体定向活检获得明确诊断，3 例患者通过检查颅外病变获得明确诊断。病理结果多种多样，最常见的诊断为朗格汉斯细胞组织细胞增生症（7/19）和下丘脑炎（5/19）。19 例患者从发病到确诊的平均时间为 34±26 个月。代谢评估显示存在明显的代谢紊乱，包括血脂异常（13/16，81.3%）、高血糖（10/16，62.5%）、高尿酸血症（12/20，60%）、超重/肥胖（13/20，65.0%）和肝脂肪浸润（10/13，76.6%）。
手术或立体定向活检均为可靠且相对安全的方法，有助于明确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严重。此类病例的处理应包括对原发性疾病的治疗以及对内分泌和代谢紊乱的治疗。
