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高身材患者的病因及临床特征:单中心经验

Etiology and Clinical Profile of Patients with Tall Stature: A Single-Center Experience.

作者信息

Goyal Alpesh, Jyotsna Viveka P, Singh Arun K C, Gupta Yashdeep, Khadgawat Rajesh

机构信息

Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Indian J Endocrinol Metab. 2020 Sep-Oct;24(5):428-433. doi: 10.4103/ijem.IJEM_360_20. Epub 2020 Nov 9.

Abstract

BACKGROUND

There is no published literature on the profile of patients with tall stature (TS) from India. This study aimed to evaluate the etiological and clinical profile of patients with TS referred to our hospital.

MATERIALS AND METHODS

We performed a retrospective review of records of patients referred to us for evaluation of TS (January 2007 to March 2020). Relevant clinical, anthropometric, biochemical, and radiological data at presentation were recorded, and the final diagnosis reviewed.

RESULTS

The study included 16 subjects (6 boys, 10 girls) with a mean age at presentation of 13.2 ± 3.6 years. Most subjects were pubertal ( = 10) and belonged to the overweight or obese category ( = 10). The mean height and height standard deviation score (SDS) were 172.3 ± 20.3 cm and 3.6 ± 1.5, respectively, while mean mid-parental height (MPH) and MPH SDS were 168.8 ± 8.8 cm and 1.2 ± 0.9, respectively. The etiological diagnoses were familial TS ( = 9), acrogigantism ( = 3), obesity-related TS ( = 2), constitutional advancement of growth ( = 1), and Marfan syndrome ( = 1). The mean height SDS in subjects with acrogigantism was 6.4 ± 1.2 compared to 3.0 ± 0.6 in those with other etiologies of TS. Only one girl with familial TS and significantly increased predicted adult height (+4.56 SDS) opted for sex steroid therapy.

CONCLUSION

Familial TS is the most common diagnosis among patients referred for evaluation to our hospital. One should consider the possibility of acrogigantism in patients with growth acceleration, extreme TS, and markedly increased gap between height SDS and MPH SDS. Most patients with familial TS require reassurance and sex steroid therapy should be reserved for highly selected cases.

摘要

背景

目前尚无关于印度身材高大(TS)患者情况的公开文献。本研究旨在评估转诊至我院的TS患者的病因及临床情况。

材料与方法

我们对2007年1月至2020年3月期间转诊至我院进行TS评估的患者记录进行了回顾性分析。记录了就诊时相关的临床、人体测量、生化和放射学数据,并对最终诊断进行了复查。

结果

该研究纳入了16名受试者(6名男孩,10名女孩),就诊时的平均年龄为13.2±3.6岁。大多数受试者处于青春期(n = 10),属于超重或肥胖类别(n = 10)。平均身高和身高标准差评分(SDS)分别为172.3±20.3厘米和3.6±1.5,而平均父母平均身高(MPH)和MPH SDS分别为168.8±8.8厘米和1.2±0.9。病因诊断为家族性TS(n = 9)、肢端肥大症(n = 3)、肥胖相关TS(n = 2)、体质性生长加速(n = 1)和马凡综合征(n = 1)。肢端肥大症患者的平均身高SDS为6.4±1.2,而其他TS病因患者为3.0±0.6。只有一名家族性TS且预测成年身高显著增加(+4.56 SDS)的女孩选择了性类固醇治疗。

结论

在转诊至我院进行评估的患者中,家族性TS是最常见的诊断。对于生长加速、极度TS以及身高SDS与MPH SDS之间差距明显增大的患者,应考虑肢端肥大症的可能性。大多数家族性TS患者需要安心,性类固醇治疗应仅用于经过严格筛选的病例。

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本文引用的文献

3
Tall Stature: A Challenge for Clinicians.高身材:临床医生面临的一项挑战。
Curr Pediatr Rev. 2019;15(1):10-21. doi: 10.2174/1573396314666181105092917.
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The Biology of Stature.身高的生物学原理。
J Pediatr. 2016 Jun;173:32-8. doi: 10.1016/j.jpeds.2016.02.068. Epub 2016 Mar 26.
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The Evaluation and Management of Tall Stature.高身材的评估与管理
Horm Res Paediatr. 2016;85(5):347-52. doi: 10.1159/000443685. Epub 2016 Feb 5.
10
Investigation and management of tall stature.身材高大的调查与管理。
Arch Dis Child. 2014 Aug;99(8):772-7. doi: 10.1136/archdischild-2013-304830. Epub 2014 May 15.

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