To date, 6 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability is the core feature, together with minor facial dysmorphisms and obesity. We describe the first case of a young patient with a maternally inherited microduplication in 17p13.1 presenting with growth hormone deficiency. The boy was addressed to the endocrine division for growth retardation (weight and height <3rd percentile). Besides minor facial dysmorphisms, physical and neurological examinations were normal except for motor dyspraxia. Basic blood tests and endocrinological investigations were normal, but IGF1 levels were low for his age. Growth hormone deficiency was confirmed. Hypothalamic pituitary MRI was normal. His karyotype was 46XY. Array-CGH analysis detected a 422-kb copy number gain in the spanning region 17p13.1 inherited from his mother. Although familial short stature is considered a "normal" variation of growth retardation, hormonal and genetic investigation is essential in the etiological diagnosis.

中文翻译：

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17p13.1儿童，家庭矮小身材和生长激素缺乏症的微复制综合征：病例报告和文献复习。

迄今为止，文献中已经描述了6例17p13.1微复制。智力障碍以及轻微的面部畸形和肥胖是其核心特征。我们描述了第一例年轻患者，其在17p13.1中具有母体遗传性微复制，并伴有生长激素缺乏症。该男孩因发育迟缓（体重和身高<3％百分位数）而被送往内分泌科。除了轻微的面部畸形外，身体和神经系统检查均正常，除了运动功能障碍。基本血液检查和内分泌检查均正常，但IGF1水平在该年龄段较低。确认生长激素缺乏。下丘脑垂体MRI正常。他的核型为46XY。阵列-CGH分析在跨越区域17p13中检测到422-kb的拷贝数增益。1从他的母亲继承。尽管家族性矮小被认为是发育迟缓的“正常”变异，但是激素和遗传学研究在病因诊断中至关重要。