Saroufim Rita, Eugster Erica A
Division of Pediatric Endocrinology, Department of Pediatrics, Riley Hospital for Children at IU Health, Indiana University School of Medicine, Indianapolis, IN, USA.
Indian J Pediatr. 2021 Dec;88(12):1209-1213. doi: 10.1007/s12098-021-03824-3. Epub 2021 Jul 1.
Short stature is one of the most common reasons for referral to pediatric endocrinologists. The vast majority of short children do not have growth hormone (GH) deficiency or another pathologic process that is interfering with normal growth. While GH has been approved in the US for several etiologies of non-GH deficient short stature, its high cost and need for daily injections represent barriers for many families. Alternative agents for the management of short stature include the use of gonadotropin releasing hormone analogs (GnRHas) to delay puberty, and aromatase inhibitors (AIs) in boys to postpone epiphyseal fusion. The results of studies employing GnRHas as either monotherapy or combined with GH are mixed, and there is a dearth of rigorously designed clinical trials that have followed patients to adult height. While AIs have been found to result in modest increases in adult height in some studies, important questions about their long-term safety exist. The C-type natriuretic peptide analog vosoritide is an experimental agent that is emerging as a potential treatment for a few specific conditions including achondroplasia, although its efficacy in attenuating disproportionality is as yet unproven. While each of these therapeutic strategies holds promise, none are currently considered standard of care and several important questions remain. These include the impact of these interventions on quality of life as well as long-term outcomes.
身材矮小是转诊至儿科内分泌专家处的最常见原因之一。绝大多数身材矮小的儿童并不存在生长激素(GH)缺乏或其他干扰正常生长的病理过程。虽然在美国生长激素已被批准用于多种非生长激素缺乏性身材矮小的病因,但它的高成本以及每日注射的需求对许多家庭来说都是障碍。治疗身材矮小的替代药物包括使用促性腺激素释放激素类似物(GnRHas)来延迟青春期,以及在男孩中使用芳香化酶抑制剂(AIs)来推迟骨骺融合。使用GnRHas作为单一疗法或与生长激素联合使用的研究结果不一,而且缺乏对患者追踪至成人身高的严格设计的临床试验。虽然在一些研究中发现芳香化酶抑制剂会使成人身高有适度增加,但关于其长期安全性仍存在重要问题。C型利钠肽类似物沃索利肽是一种实验性药物,正逐渐成为包括软骨发育不全在内的一些特定病症的潜在治疗方法,尽管其在减轻身材比例失调方面的疗效尚未得到证实。虽然这些治疗策略都有前景,但目前均未被视为标准治疗方法,并且仍存在几个重要问题。这些问题包括这些干预措施对生活质量以及长期结局的影响。