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中枢性肾上腺皮质功能减退症:病因及诊断方法

Central Adrenal Insufficiency: Etiology and Diagnostic Approach.

作者信息

Yıldız Melek, Yıldırım Ruken, Baş Firdevs

机构信息

İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey

Diyarbakır Children’s Hospital, Clinic of Pediatrics, Diyarbakır, Turkey

出版信息

J Clin Res Pediatr Endocrinol. 2025 Jan 10;17(Suppl 1):72-79. doi: 10.4274/jcrpe.galenos.2024.2024-7-2-S. Epub 2024 Dec 23.

DOI:10.4274/jcrpe.galenos.2024.2024-7-2-S
PMID:39713897
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11730094/
Abstract

Central adrenal insufficiency (CAI) occurs due to a pituitary gland disorder (secondary AI) or hypothalamic dysfunction (tertiary AI). It is a potentially life-threatening condition that has many congenital and acquired causes. Adrenocorticotropic hormone deficiency may be isolated or more commonly it can be accompanied by other pituitary hormone deficiencies or midline defects. The signs and symptoms of CAI are associated with glucocorticoid deficiency. A three-step diagnostic approach including dynamic stimulation tests is recommended in the evaluation of patients with suspected CAI. Here, members of the ‘Adrenal Working Group’ of ‘The Turkish Society for Pediatric Endocrinology and Diabetes’ present an evidence-based review with good practice points and recommendations for etiology and diagnostic approach in children and adolescents with CAI.

摘要

中枢性肾上腺皮质功能减退症(CAI)是由垂体疾病(继发性肾上腺皮质功能减退症)或下丘脑功能障碍(三发性肾上腺皮质功能减退症)引起的。它是一种潜在的危及生命的疾病,有许多先天性和后天性病因。促肾上腺皮质激素缺乏可能是孤立的,或更常见的是,它可能伴有其他垂体激素缺乏或中线缺陷。CAI的体征和症状与糖皮质激素缺乏有关。在评估疑似CAI的患者时,建议采用包括动态刺激试验在内的三步诊断方法。在此,土耳其儿科内分泌与糖尿病学会“肾上腺工作组”的成员对儿童和青少年CAI的病因及诊断方法进行了循证综述,并给出了实用要点和建议。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f41/11730094/fb7728cb3d6a/JClinResPediatrEndocrinol-17-72-figure-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f41/11730094/fb7728cb3d6a/JClinResPediatrEndocrinol-17-72-figure-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f41/11730094/fb7728cb3d6a/JClinResPediatrEndocrinol-17-72-figure-1.jpg

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本文引用的文献

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J Clin Res Pediatr Endocrinol. 2025 Jan 10;17(Suppl 1):93-101. doi: 10.4274/jcrpe.galenos.2024.2024-6-23-S. Epub 2024 Dec 23.
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Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.21-羟化酶缺乏所致先天性肾上腺皮质增生症的临床、生化及分子特征
J Clin Res Pediatr Endocrinol. 2025 Jan 10;17(Suppl 1):3-11. doi: 10.4274/jcrpe.galenos.2024.2024-6-6-S. Epub 2024 Dec 23.
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Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials.
MC4R 激动剂赛美曲肽治疗 LEPR 或 POMC 缺乏引起的重度肥胖患者的疗效和安全性:单臂、开放标签、多中心、3 期临床试验。
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Central adrenal insufficiency in children and adolescents.儿童和青少年的中枢性肾上腺功能不全。
Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):425-444. doi: 10.1016/j.beem.2018.03.012. Epub 2018 Apr 10.
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Group 2: Adrenal insufficiency: screening methods and confirmation of diagnosis.组 2:肾上腺功能不全:筛查方法和诊断确认。
Ann Endocrinol (Paris). 2017 Dec;78(6):495-511. doi: 10.1016/j.ando.2017.10.005. Epub 2017 Nov 23.
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Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency.从孤立性生长激素缺乏进展为垂体激素联合缺乏。
Growth Horm IGF Res. 2017 Dec;37:19-25. doi: 10.1016/j.ghir.2017.10.005. Epub 2017 Oct 19.
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A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.一名促肾上腺皮质激素原缺乏症患者:一项愈发重要的诊断。
J Clin Res Pediatr Endocrinol. 2018 Mar 1;10(1):68-73. doi: 10.4274/jcrpe.4638. Epub 2017 Jul 24.
8
A systematic review and meta-analysis of Synacthen tests for assessing hypothalamic-pituitary-adrenal insufficiency in children.一项关于用于评估儿童下丘脑-垂体-肾上腺功能不全的辛纳肽试验的系统评价和荟萃分析。
Arch Dis Child. 2016 Sep;101(9):847-53. doi: 10.1136/archdischild-2015-308925. Epub 2016 Mar 7.
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