Potocki–Lupski Syndrome (PTLS, MIM 610883), or duplication of chromosome 17p11.2, is a clinically recognizable condition characterized by infantile hypotonia, failure to thrive, developmental delay, intellectual disability, and congenital anomalies. Short stature, classified as greater than two standard deviations below the mean, has not previously been considered a major feature of PTLS. Retrospective chart review on a cohort of 37 individuals with PTLS was performed to investigate the etiology of short stature. Relevant data included anthropometric measurements, insulin growth factor‐1 (IGF‐1), insulin‐like growth factor binding protein 3 (IGFBP‐3), growth hormone (GH) stimulation testing, blood glucose levels, brain MRI, and bone age. Approximately 25% (9/37) of individuals with PTLS had short stature. Growth hormone deficiency (GHD) was definitively identified in two individuals. These two PTLS patients with growth hormone deficiency, as well as three others with short stature and no documented GHD, received growth hormone and obtained improvement in linear growth. One individual was identified to have pituitary abnormalities on MRI and had complications of hypoglycemia due to unrecognized GHD. Individuals with PTLS can benefit from undergoing evaluation for GHD should they present with short stature or hypoglycemia. Early identification of GHD could facilitate potential therapeutic benefit for individuals with PTLS, including linear growth, musculoskeletal, and in cases of hypoglycemia, potentially cognitive development as well.

中文翻译：

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Potocki-Lupski 综合征患者的身材矮小和生长激素缺乏：扩大 PTLS 的表型。


波托茨基-卢普斯基综合征 (PTLS, MIM 610883) 或染色体 17p11.2 重复是一种临床可识别的疾病，其特征是婴儿肌张力低下、发育迟缓、发育迟缓、智力障碍和先天性异常。身材矮小被归类为低于平均值两个标准差以上，此前并未被认为是 PTLS 的主要特征。对 37 名 PTLS 患者进行回顾性图表审查，以调查身材矮小的病因。相关数据包括人体测量、胰岛素生长因子-1 (IGF-1)、胰岛素样生长因子结合蛋白 3 (IGFBP-3)、生长激素 (GH) 刺激测试、血糖水平、脑 MRI 和骨龄。大约 25% (9/37) 的 PTLS 患者身材矮小。在两个人中明确发现了生长激素缺乏症（GHD）。这两名患有生长激素缺乏症的 PTLS 患者，以及另外三名身材矮小且无 GHD 记录的患者，接受了生长激素治疗并获得了线性生长的改善。 MRI 发现一名患者存在垂体异常，并因未识别的生长激素缺乏症而出现低血糖并发症。患有 PTLS 的个体如果出现身材矮小或低血糖症状，可以从接受 GHD 评估中受益。早期识别 GHD 可以促进 PTLS 患者的潜在治疗益处，包括线性生长、肌肉骨骼，以及在低血糖的情况下，还有潜在的认知发展。