Gabreanu Georgiana Roxana
Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Discoveries (Craiova). 2018 Apr 12;6(1):e82. doi: 10.15190/d.2018.2.
Growth hormone deficiency (GHD) is an endocrine disorder, which may be either isolated or associated with other pituitary hormone deficiencies. In children, short stature is a useful clinical marker for GHD. In contrast, symptomatology is not always so obvious in adults, and the existing methods of testing might be inaccurate and imprecise, especially in the lack of a suggestive clinical profile. Since the quality of life of patients diagnosed with GHD could also be significantly affected, in both children and adults, a correct and accurate diagnosis is therefore tremendously important to select those patients that can benefit from the GH treatment. In general, the endocrine diseases are challenging in terms of diagnosis, the simple measurement of the basal level of hormones is not sufficient for distinguishing between the physiological and pathological conditions. Traditionally, several stimulation tests have been considered by professional clinical guidelines, such as insulin tolerance test (ITT), GHRH-arginine stimulation test and the glucagon stimulation test, and all of them have both advantages and limitations. More recently (December 2017), FDA approved a growth hormone secretagogue receptor agonist, macimorelin, for the diagnosis of adults with GHD. The obvious advantage for macimorelin is the simple oral administration and the high level of agreement with the insulin tolerance test for those patients with organic disease and low levels of insulin-like growth factor (IGF-I). However, the safety profile and the diagnostic value was not yet established for the pediatric population and for those adults with extreme or morbid obesity. In addition, administration of macimorelin with drugs that prolong QT interval and CYP3A4 inducers should be avoided. Genetic screening could obviously bring a great insight in the GHD pathology. However, it remains an open question if it would be also cost effective to include it in the routine evaluation of the patients with GHD. Although major progresses have been made in this area, genetic testing continues to be difficult to access, mostly because of its high costs, especially in the low-income and middle-income countries.
生长激素缺乏症（GHD）是一种内分泌疾病，可能是孤立性的，也可能与其他垂体激素缺乏症相关。在儿童中，身材矮小是GHD的一个有用临床指标。相比之下，成人的症状表现并不总是那么明显，现有的检测方法可能不准确且不精确，尤其是在缺乏提示性临床特征的情况下。由于GHD患者的生活质量在儿童和成人中都会受到显著影响，因此正确准确的诊断对于选择那些能从生长激素（GH）治疗中获益的患者极为重要。一般来说，内分泌疾病在诊断方面具有挑战性，仅测量激素基础水平不足以区分生理和病理状况。传统上，专业临床指南考虑了多种刺激试验，如胰岛素耐量试验（ITT）、生长激素释放激素 - 精氨酸刺激试验和胰高血糖素刺激试验，所有这些试验都有其优缺点。最近（2017年12月），美国食品药品监督管理局（FDA）批准了一种生长激素促分泌素受体激动剂——麦角新碱，用于诊断成人GHD。麦角新碱的明显优势在于口服给药简便，对于患有器质性疾病且胰岛素样生长因子（IGF - I）水平低的患者，其与胰岛素耐量试验的一致性较高。然而，其安全性和诊断价值在儿科人群以及极度肥胖或病态肥胖的成人中尚未确定。此外，应避免将麦角新碱与延长QT间期的药物和细胞色素P450 3A4诱导剂同时使用。基因筛查显然可以为GHD病理学带来深刻见解。然而，将其纳入GHD患者的常规评估是否具有成本效益仍是一个悬而未决的问题。尽管该领域已取得重大进展，但基因检测仍然难以普及，主要是因为成本高昂，尤其是在低收入和中等收入国家。
