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儿童生长激素缺乏

最后审阅: 12 Oct 2024
最后更新: 28 Jun 2023

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
完整详情

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
完整详情

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
完整详情

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
完整详情

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
完整详情

治疗流程

急症处理

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 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
    更多 鉴别诊断
  • 指南

    • 成人患者以及从儿科护理过渡至成人护理患者的生长激素缺乏症管理指南
    • 儿童和青少年生长激素和胰岛素样生长因子-Ⅰ 治疗指南:生长激素缺乏症、特发性身材矮小和原发性胰岛素样生长因子-Ⅰ 缺乏症
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