对儿童身材矮小的遗传原因的新见解。

TouchREVIEWS in endocrinology Pub Date : 2022-06-01 Epub Date: 2022-05-25 DOI:10.17925/EE.2022.18.1.49
Concetta Mastromauro, Francesco Chiarelli
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引用次数: 1

摘要

身材矮小是儿童时期咨询生长专家的常见原因。正常身高是一种多基因性状,涉及荷尔蒙、营养和社会心理因素之间复杂的相互作用。遗传因素在理解身材矮小方面变得非常重要。排除生长衰竭最常见的原因后,临床医生需要评估是否考虑遗传原因。事实上,在临床实践中,矮小的遗传原因很可能被误诊,矮小的根本原因经常是未知的,因此将儿童归类为特发性矮小(ISS)。然而,在过去的十年中,新的遗传技术已经导致与线性生长相关的新基因的发现,从而有能力定义新的可能的矮小病因。事实上,由于新的遗传学进展,有可能正确地重新分类大约25-40%以前被诊断为ISS的儿童。本文的目的是描述身材矮小的主要单基因原因,由于分子遗传学的进步,这些原因在矮小儿童的临床治疗中扮演着越来越重要的角色。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Novel Insights Into the Genetic Causes of Short Stature in Children.

Novel Insights Into the Genetic Causes of Short Stature in Children.

Novel Insights Into the Genetic Causes of Short Stature in Children.

Short stature is a common reason for consulting a growth specialist during childhood. Normal height is a polygenic trait involving a complex interaction between hormonal, nutritional and psychosocial components. Genetic factors are becoming very important in the understanding of short stature. After exclusion of the most frequent causes of growth failure, clinicians need to evaluate whether a genetic cause might be taken into consideration. In fact, genetic causes of short stature are probably misdiagnosed during clinical practice and the underlying cause of short stature frequently remains unknown, thus classifying children as having idiopathic short stature (ISS). However, over the past decade, novel genetic techniques have led to the discovery of novel genes associated with linear growth and thus to the ability to define new possible aetiologies of short stature. In fact, thanks to the newer genetic advances, it is possible to properly re-classify about 25-40% of children previously diagnosed with ISS. The purpose of this article is to describe the main monogenic causes of short stature, which, thanks to advances in molecular genetics, are assuming an increasingly important role in the clinical approach to short children.

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