London Centre for Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital and University College London Hospitals, London, UK; Section of Molecular Basis of Rare Disease, Genetics and Genomic Medicine Programme, Great Ormond Street Hospital Institute of Child Health, University College London, London, UK.
Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Lancet Child Adolesc Health. 2021 Sep;5(9):662-676. doi: 10.1016/S2352-4642(21)00088-2. Epub 2021 Jun 30.
Unexplained or idiopathic pituitary stalk thickening or central diabetes insipidus not only harbours rare occult malignancies in 40% of cases but can also reflect benign congenital defects. Between 2014 and 2019, a multidisciplinary, expert national guideline development group in the UK systematically developed a management flowchart and clinical practice guideline to inform specialist care and improve outcomes in children and young people (aged <19 years) with idiopathic pituitary stalk thickening, central diabetes insipidus, or both. All such cases of idiopathic pituitary stalk thickening and central diabetes insipidus require dynamic pituitary function testing, specialist pituitary imaging, measurement of serum β-human chorionic gonadotropin and alpha-fetoprotein concentrations, chest x-ray, abdominal ultrasonography, optometry, and skeletal survey for occult disease. Stalk thickening of 4 mm or more at the optic chiasm, 3 mm or more at pituitary insertion, or both, is potentially pathological, particularly if an endocrinopathy or visual impairment coexists. In this guideline, we define the role of surveillance, cerebrospinal fluid tumour markers, whole-body imaging, indications, timing and risks of stalk biopsy, and criteria for discharge. We encourage a registry of outcomes to validate the systematic approach described in this guideline and research to establish typical paediatric stalk sizes and the possible role of novel biomarkers, imaging techniques, or both, in diagnosis.
不明原因或特发性垂体柄增粗或中枢性尿崩症不仅在 40%的病例中隐藏着罕见的隐匿性恶性肿瘤,还可能反映良性先天性缺陷。2014 年至 2019 年,英国一个多学科、专家国家指南制定小组系统地制定了管理流程图和临床实践指南,以告知专科护理,并改善特发性垂体柄增粗、中枢性尿崩症或两者并存的儿童和年轻人(年龄<19 岁)的结局。所有特发性垂体柄增粗和中枢性尿崩症的病例均需要进行动态垂体功能测试、专科垂体成像、血清β-人绒毛膜促性腺激素和甲胎蛋白浓度的测量、胸部 X 光检查、腹部超声检查、验光和骨骼调查以发现隐匿性疾病。视交叉处垂体柄增粗 4 毫米或以上,或垂体插入处增粗 3 毫米或以上,或两者兼而有之,可能具有病理性,特别是如果存在内分泌紊乱或视力损害。在本指南中,我们定义了监测、脑脊液肿瘤标志物、全身成像、适应证、时机和风险、以及出院标准的作用。我们鼓励建立一个结果登记处,以验证本指南中描述的系统方法,并开展研究,以确定典型的儿科垂体柄大小以及新型生物标志物、成像技术或两者在诊断中的可能作用。