Short Stature in Children Born Small for Gestational Age

A. Hokken-Koelega
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Abstract

Small-for-gestational-age (SGA) is defined as a birth weight and/or length <–2 SDS. As the aetiology of SGA is multifactorial and includes maternal lifestyle and obstetric factors, placental dysfunction, and numerous (epi)genetic abnormalities, SGA-born children comprise a heterogeneous group. The majority of SGA-born infants show catch-up growth to a normal stature, but 10% remains short. For more than 30 years, studies have been performed in short children after SGA birth, including children with Silver–Russell syndrome (SRS). Studies have generally excluded short SGA children with major dysmorphic features or a (suspected) syndrome, primordial dwarfism, or DNA repair disorder. Thus present knowledge and management, particularly on GH treatment, are based on the results in non-syndromic short SGA/SRS children. This chapter presents our current knowledge of the (epi)genetic causes of short stature for those born SGA, the health consequences of SGA, and the diagnostic approach and management of short SGA-born children, including the efficacy and safety of GH treatment.
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出生时小于胎龄的儿童身材矮小
小于胎龄(SGA)被定义为出生体重和/或长度< -2 SDS。由于SGA的病因是多因素的,包括母亲的生活方式和产科因素、胎盘功能障碍和许多(外源性)遗传异常,SGA出生的儿童构成了一个异质性群体。大多数sga出生的婴儿都能达到正常的身高,但仍有10%的婴儿身材矮小。30多年来,对SGA出生后的矮个子儿童进行了研究,包括患有银罗素综合征(Silver-Russell syndrome, SRS)的儿童。研究通常排除了具有主要畸形特征或(疑似)综合征、原始侏儒症或DNA修复障碍的矮个子SGA儿童。因此,目前的知识和管理,特别是GH治疗,是基于非综合征性短SGA/SRS儿童的结果。本章介绍了我们目前对先天性SGA儿童身材矮小的(外生)遗传原因的了解,SGA的健康后果,以及先天性SGA儿童的诊断方法和管理,包括生长激素治疗的有效性和安全性。
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