主要孤立性GHD中不断发展的垂体激素缺陷:综述和专家共识。

IF 2.4 Q1 PEDIATRICS
Gerhard Binder, Dirk Schnabel, Thomas Reinehr, Roland Pfäffle, Helmuth-Günther Dörr, Markus Bettendorf, Berthold Hauffa, Joachim Woelfle
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引用次数: 11

摘要

孤立性生长激素缺乏症(GHD)的定义是生长衰竭合并骨龄延缓、血清胰岛素样生长因子-1低以及两次独立生长激素刺激试验中生长激素峰值不足。先天性GHD可以出现在任何年龄,并可能与垂体-下丘脑区域或大脑中线的显著畸形有关。在罕见的情况下,遗传分析揭示了参与脑垂体和下丘脑胚胎发生的转录因子的种系突变。获得性GHD是由辐射、炎症或肿瘤生长引起的。与有机GHD相比,特发性GHD更常见,但仍无法解释。存在从孤立性GHD发展为合并垂体激素缺乏症的风险(总组> 5%),这在患有有机GHD的儿童中明显增加,特别是垂体明显畸形的儿童。因此,在对孤立性GHD患儿的随访中,通过临床和放射学观察以及内分泌基线测试,排除额外的垂体激素缺乏是谨慎的。与原发性内分泌腺疾病相比,继发性内分泌腺缺乏的临床表现往往较轻。垂体激素缺乏可以随着时间的推移从轻度不足发展到严重不足。这篇综述总结了目前在诊断为孤立性GHD的儿童在rhGH治疗期间发生的额外垂体激素缺陷的诊断和治疗方面的知识。虽然危险因素是已知的,但没有绝对的标准可以排除没有进展为联合垂体激素缺乏症风险的儿童。建议对有机GHD患者终生监测脑垂体内分泌功能。这篇论文是儿科内分泌学家研讨会的精华,他们筛选了文献中关于最初孤立的GHD中发展的垂体缺陷及其诊断和治疗的证据。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Evolving pituitary hormone deficits in primarily isolated GHD: a review and experts' consensus.

Isolated growth hormone deficiency (GHD) is defined by growth failure in combination with retarded bone age, low serum insulin-like growth factor-1, and insufficient GH peaks in two independent GH stimulation tests. Congenital GHD can present at any age and can be associated with significant malformations of the pituitary-hypothalamic region or the midline of the brain. In rare instances, genetic analysis reveals germline mutations of transcription factors involved in embryogenesis of the pituitary gland and the hypothalamus. Acquired GHD is caused by radiation, inflammation, or tumor growth. In contrast to organic GHD, idiopathic forms are more frequent and remain unexplained.There is a risk of progression from isolated GHD to combined pituitary hormone deficiency (> 5% for the total group), which is clearly increased in children with organic GHD, especially with significant malformation of the pituitary gland. Therefore, it is prudent to exclude additional pituitary hormone deficiencies in the follow-up of children with isolated GHD by clinical and radiological observations and endocrine baseline tests. In contrast to primary disorders of endocrine glands, secondary deficiency is frequently milder in its clinical manifestation. The pituitary hormone deficiencies can develop over time from mild insufficiency to severe deficiency. This review summarizes the current knowledge on diagnostics and therapy of additional pituitary hormone deficits occurring during rhGH treatment in children initially diagnosed with isolated GHD. Although risk factors are known, there are no absolute criteria enabling exclusion of children without any risk of progress to combined pituitary hormone deficiency. Lifelong monitoring of the endocrine function of the pituitary gland is recommended in humans with organic GHD. This paper is the essence of a workshop of pediatric endocrinologists who screened the literature for evidence with respect to evolving pituitary deficits in initially isolated GHD, their diagnosis and treatment.

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