Pediatric Section, Department of Medical Translational Sciences, University "Federico II" of Naples, Naples, Italy.
Ital J Pediatr. 2014 Jun 2;40:51. doi: 10.1186/1824-7288-40-51.
CHARGE association is characterized by ocular Coloboma, Heart malformations, choanal Atresia, Retardation of growth and development, Genital abnormalities and inner and external Ear abnormalities. Growth failure is a frequent find mainly associated with feeding difficulties or systemic diseases. To date, GH deficiency has been reported in only few patients with CHARGE association however long-term effects of GH treatment, up to final height, have never been reported. We describe a patient with CHARGE association and GH deficiency treated with GH from the age of 3 years and 10 months up to adult height.
CHARGE 综合征的特征为眼部缺损、心脏畸形、鼻后孔闭锁、生长发育迟缓、生殖器异常和内外耳异常。生长障碍是一种常见表现,主要与喂养困难或全身疾病有关。迄今为止,仅少数 CHARGE 综合征患者报告存在生长激素缺乏症,但从未报告过 GH 治疗的长期影响,直至最终身高。我们描述了一名 CHARGE 综合征伴生长激素缺乏症的患者,从 3 岁 10 个月开始接受 GH 治疗,直至成年。