Cacciari E, Tassoni P, Parisi G, Pirazzoli P, Zucchini S, Mandini M, Cicognani A, Balsamo A
Department of Pediatrics, University of Bologna, Italy.
J Clin Endocrinol Metab. 1992 Jun;74(6):1284-9. doi: 10.1210/jcem.74.6.1592872.
Possible causes of error in the diagnosis of isolated GH deficiency are the variability of GH response to repeated tests, the existence of transient GH deficiencies, and the low GH levels found in short statured children with delayed puberty. Sixty-three patients with variously expressed GH deficiency were retested (1 sleep test and 2 pharmacological tests) after 1-3.9 yr of GH therapy (dose, 15 U/m2.week). Forty-eight subjects had arginine, L-dopa, and sleep tests (mean serum GH concentration) twice, while 15 had only arginine and L-dopa tests. All patients were retested 1 month after withdrawal from therapy. The criteria used to subdivide the patients were pubertal development and response to pharmacological and sleep tests at first diagnosis and on retesting. The initial diagnosis in 33 subjects (52.4%) was not confirmed, and 13 (20.6%) were no longer deficient on retesting. The percentage of normalization was high for the sleep test (43.9%), lower for the pharmacological test (24.5%), and lower still (12.9%) for pharmacological and sleep tests considered together. While none of the 28 subjects who remained prepubertal at retesting normalized in any of the tests, 13 of the 35 subjects retested during puberty did. When normalization was observed in pubertal subjects, it occurred predominantly in the sleep test. Growth velocity and height age/bone age increment ratio after the first year of therapy were no different for the groups of subjects classified according to GH secretion on retesting. Our study demonstrates that a number of children diagnosed as GH deficient do not have a true deficiency. However, such a diagnostic error seems to have little effect, at least in the first year of therapy, on the effectiveness of GH treatment.
孤立性生长激素缺乏症诊断中可能出现错误的原因包括生长激素对重复检测反应的变异性、短暂性生长激素缺乏的存在，以及青春期延迟的矮小儿童中生长激素水平较低。63例生长激素缺乏表现各异的患者在接受1 - 3.9年的生长激素治疗（剂量为15 U/m²·周）后重新进行检测（1次睡眠检测和2次药物检测）。48名受试者进行了精氨酸、左旋多巴和睡眠检测（平均血清生长激素浓度）两次，而15名受试者仅进行了精氨酸和左旋多巴检测。所有患者在停止治疗1个月后重新进行检测。用于对患者进行细分的标准是首次诊断时以及重新检测时的青春期发育情况和对药物及睡眠检测的反应。33名受试者（52.4%）的初始诊断未得到证实，13名（20.6%）在重新检测时不再缺乏生长激素。睡眠检测的正常化百分比很高（43.9%），药物检测的正常化百分比较低（24.5%），药物检测和睡眠检测综合起来的正常化百分比更低（12.9%）。重新检测时仍处于青春期前的28名受试者中，没有一人在任何检测中实现正常化，而在青春期重新检测的35名受试者中有13人实现了正常化。当青春期受试者出现正常化时，主要发生在睡眠检测中。根据重新检测时的生长激素分泌情况分类的受试者组，在治疗第一年的生长速度和身高年龄/骨龄增加率并无差异。我们的研究表明，许多被诊断为生长激素缺乏的儿童并非真正缺乏生长激素。然而，这种诊断错误似乎至少在治疗的第一年对生长激素治疗的有效性影响不大。
