Galasso C, Scirè G, Boscherini B
Department of Pediatrics, University Tor Vergata, Rome, Italy.
Horm Res. 1995;44 Suppl 3:42-8. doi: 10.1159/000184673.
In order to study the pathogenesis of short stature in some of the best known and most frequent dysmorphic syndromes, we have reviewed the most significant studies conducted on somatrotropin secretion and on response to replacement treatment with human growth hormone in pediatric patients. In particular, the study examines the results presented in the literature, and in a few of our cases, those obtained with regard to Noonan, Silver-Russell and Prader-Willi syndrome patients, to achondroplasia and hypochondroplasia patients, and to Down syndrome patients. Finally, we shall present a review of a few, less frequent dysmorphic syndromes with short stature, in which a growth hormone deficiency has been diagnosed and replacement treatment attempted.
为了研究一些最知名且最常见的畸形综合征中身材矮小的发病机制,我们回顾了针对儿科患者生长激素分泌及对人生长激素替代治疗反应所开展的最重要研究。具体而言,本研究审视了文献中呈现的结果,以及我们部分病例中关于努南综合征、Silver-Russell综合征和普拉德-威利综合征患者、软骨发育不全和低软骨发育不全患者以及唐氏综合征患者所取得的结果。最后,我们将对一些身材矮小且不太常见的畸形综合征进行综述,这些综合征已被诊断为生长激素缺乏并尝试进行替代治疗。