Triantafyllou Panagiota, Christoforidis Athanasios, Vargiami Euthymia, Zafeiriou Dimitrios I
Growth Horm IGF Res. 2014 Dec;24(6):271-5. doi: 10.1016/j.ghir.2014.10.001.
Costello syndrome (CS) is considered an overgrowth disorder given the macrosomia that is present at birth .However, shortly after birth the weight drops dramatically and the patients are usually referred for failure to thrive. Subsequently, affected patients develop the distinctive coarse facial appearance and are at risk for cardiac anomalies and solid tumor malignancies. Various endocrine disorders, although not very often, have been reported in patients with CS, including growth hormone deficiency, hypoglycemia, ACTH deficiency, cryptorchidism and hypothyroidism. We report a case of Costello syndrome with hypothyroidism, cryptorchidism and growth hormone deficiency and we evaluate the long-term safety and efficacy of growth hormone replacement therapy. The index patient is a paradigm of successful and safe treatment with growth hormone for almost 7 years. Since patients with CS are at increased risk for cardiac myopathy and tumor development they deserve close monitoring during treatment.
科斯特洛综合征（CS）因出生时即存在巨大儿而被视为一种过度生长障碍。然而，出生后不久体重会急剧下降，患者通常因生长发育不良而被转诊。随后，受影响的患者会出现独特的粗糙面容，并面临心脏异常和实体肿瘤恶性病变的风险。尽管并不常见，但在CS患者中已报告了各种内分泌疾病，包括生长激素缺乏、低血糖、促肾上腺皮质激素缺乏、隐睾症和甲状腺功能减退。我们报告一例患有甲状腺功能减退、隐睾症和生长激素缺乏的科斯特洛综合征病例，并评估生长激素替代治疗的长期安全性和有效性。该索引患者是成功且安全地接受生长激素治疗近7年的典范。由于CS患者患心肌病和肿瘤的风险增加，他们在治疗期间应接受密切监测。
