小结
定义
病史和体格检查
关键诊断因素
- 存在的危险因素
- 身材矮小症
- 生长速度欠佳
- 矮于遗传靶身高
- 缺乏青春期骤长和/或青春期延迟
- 中枢神经系统（鞍上）肿瘤症状
- 其他垂体激素缺乏的症状
- 特征性外貌
其他诊断因素
- 辅助分娩
- 视觉损害
- 相关性畸形特征
- 局灶神经系统功能障碍
- 食欲亢进症/肥胖
- 体温失调/睡眠紊乱
- 行为问题
危险因素
- GHD 家族史
- 其他垂体激素缺乏
- 中枢神经系统（CNS) 肿瘤/囊肿
- 放射治疗
- 中线异常
- CNS 浸润性疾病
- 围产期并发症
- CNS 外伤
- 预先存在的铁超负荷症
- 虐待儿童
- 中枢神经系统感染
诊断性检查
首要检查
- 腕 X 光
- 甲状腺功能检测
- IGF1 和 IGFBP3
- 基线垂体功能检查
- 基础血液学和生化筛查
需考虑的检查
- GH 激发试验
- 颅脑 MRI 扫描
- 头颅 CT/颅骨 X 光
- 垂体激素完整评估
- 转诊至相应的专科
- 遗传学检查
- 随机 GH
治疗流程
确诊的 GH 缺乏症
撰稿人
作者
Hoong-Wei Gan, BMedSci (Hons), BMBS, MSc, PhD, MRCPCH
Consultant Paediatric Endocrinologist
Great Ormond Street Hospital for Children NHS Foundation Trust
London
UK
利益声明
HWG has received educational grants and had travel expenses and hospitality paid for by Ipsen and Novo Nordisk for international meetings. He has received lecture fees from Ipsen. HWG is Deputy Chair of the UK National Paediatric Craniopharyngioma Guideline Development Group and is an author of references cited in this topic.
Harshini Katugampola, BSc, MBBS, MSc, PhD, MRCPCH
Consultant Paediatric Endocrinologist
Great Ormond Street Hospital for Children NHS Foundation Trust
London
UK
利益声明
HK has had registration expenses paid for by Novo Nordisk for international meetings. HK is an author of references cited in this topic.
鸣谢
Dr Hoong-Wei Gan and Dr Harshini Katugampola would like to gratefully acknowledge Dr Ameeta Mehta, Professor Mehul T. Dattani, and Dr Kyriaki S. Alatzoglou, previous contributors to this topic.
利益声明
AM is an author of references cited in this topic. MTD received lecture fees from Novo Nordisk, Pfizer, and Ipsen; consultancy fees from Novo Nordisk, Pfizer, Ipsen, and Sandoz; and was a member of a Novo Nordisk advisory board. Novo Nordisk, Pfizer, Ferring, Ipsen, Lilly, Merck, and Serono have made financial contributions to MTD's departmental teaching programme. MTD declared that none of these activities are related to this topic. MTD is an author of references cited in this topic. KSA is an author of references cited in this topic.
同行评议者
Martin Savage, MA, MD, FRCP, MRCPCH
Professor of Paediatric Endocrinology (Emeritus)
Department of Endocrinology
William Harvey Research Institute
St Bartholomew's and the Royal London School of Medicine and Dentistry
John Vane Science Centre
London
UK
利益声明
MS has received honoraria and consultancy payments from Ipsen, Pfizer, Novo Nordisk, and Merck Serono.
Paul Saenger, MD, MACE
Professor of Pediatrics
Department of Pediatrics (Endocrinology)
Montefiore Medical Center
Albert Einstein College of Medicine
New York
NY
利益声明
PS declares that he has no competing interests.
鉴别诊断
- 特发性身材矮小
- 体质性生长发育延迟
- 家族性矮小症
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