Pagani Sara, Radetti Giorgio, Meazza Cristina, Bozzola Mauro
Department of Internal Medicine and Therapeutics, Unit of Pediatrics and Adolescentology, University of Pavia, Fondazione IRCCS San Matteo, Pavia.
Marienklinik, via Claudia De Medici 2, Bolzano.
J Pediatr Endocrinol Metab. 2017 Apr 1;30(4):427-430. doi: 10.1515/jpem-2016-0355.
The majority of children who present for evaluation of tall stature fall under the diagnosis of constitutional tall stature (CTS).
To investigate mechanisms of tall stature, we evaluated serum IGF-I values and the expression of the GHR gene in the peripheral blood cells of 46 subjects with normal height, 38 with tall stature and 30 healthy children with short stature.
Our results showed significantly lower IGF-I levels in children with short stature (-0.57±0.18 SDS) compared to control children (0.056±0.19 SDS; p<0.0001) and to subjects with tall stature (0.594±0.17; p=0.00067). Furthermore, we found significantly higher GHR gene expression levels in tall children (321.84±90.04 agGHR/5×105agGAPDH) compared with other groups of subjects (short children: 30.13±7.5 agGHR/5×105agGAPDH, p<0.0001; controls: 86.81ag±19.5 GHR/5×105agGAPDH, p=0.035). The GHR gene expression level in short children was significantly lower compared with control subjects (p=0.0068).
Significantly higher GHR gene expression levels in tall subjects suggests a sensitization of the GHR-IGF system leading to overgrowth in CTS.
前来评估身材高大的大多数儿童被诊断为体质性身材高大（CTS）。
为了研究身材高大的机制，我们评估了46名身高正常的受试者、38名身材高大的受试者和30名身材矮小的健康儿童外周血细胞中的血清IGF-I值和GHR基因的表达。
我们的结果显示，身材矮小的儿童（-0.57±0.18 SDS）的IGF-I水平明显低于对照儿童（0.056±0.19 SDS；p<0.0001）和身材高大的受试者（0.594±0.17；p=0.00067）。此外，我们发现身材高大的儿童（321.84±90.04 agGHR/5×105agGAPDH）的GHR基因表达水平明显高于其他受试者组（身材矮小的儿童：30.13±7.5 agGHR/5×105agGAPDH，p<0.0001；对照组：86.81ag±19.5 GHR/5×105agGAPDH，p=0.035）。身材矮小的儿童的GHR基因表达水平明显低于对照受试者（p=0.0068）。
身材高大的受试者中GHR基因表达水平明显较高，提示GHR-IGF系统敏感化导致CTS患者生长过度。
