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青春期身材高大和巨人症:临床和遗传方面——文献综述及建议。

Tall stature and gigantism in transition age: clinical and genetic aspects-a literature review and recommendations.

机构信息

Department of Experimental Medicine, Sapienza University of Rome, Viale Regina Elena 324, 00161, Rome, Italy.

Oncological Endocrinology Unit, IRCCS Regina Elena National Cancer Institute, Rome, Italy.

出版信息

J Endocrinol Invest. 2024 Apr;47(4):777-793. doi: 10.1007/s40618-023-02223-z. Epub 2023 Oct 27.

DOI:10.1007/s40618-023-02223-z
PMID:37891382
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10965707/
Abstract

PURPOSE

Tall stature is defined as height greater than the threshold of more than 2 standard deviations above the average population height for age, sex, and ethnicity. Many studies have described the main aspects of this condition during puberty, but an analysis of the characteristics that the physician should consider in the differential diagnosis of gigantism-tall stature secondary to a pituitary tumour-during the transition age (15-25 years) is still lacking.

METHODS

A comprehensive search of English-language original articles was conducted in the MEDLINE database (December 2021-March 2022). We selected all studies regarding epidemiology, genetic aspects, and the diagnosis of tall stature and gigantism during the transition age.

RESULTS

Generally, referrals for tall stature are not as frequent as expected because most cases are familial and are usually unreported by parents and patients to endocrinologists. For this reason, lacking such experience of tall stature, familiarity with many rarer overgrowth syndromes is essential. In the transition age, it is important but challenging to distinguish adolescents with high constitutional stature from those with gigantism. Pituitary gigantism is a rare disease in the transition age, but its systemic complications are very relevant for future health. Endocrine evaluation is crucial for identifying conditions that require hormonal treatment so that they can be treated early to improve the quality of life and prevent comorbidities of individual patient in this age range.

CONCLUSION

The aim of our review is to provide a practical clinical approach to recognise adolescents, potentially affected by gigantism, as early as possible.

摘要

目的

高身材定义为身高超过年龄、性别和种族的平均人群身高的 2 个标准差以上的阈值。许多研究已经描述了青春期期间这种情况的主要方面,但在过渡年龄(15-25 岁)时,对于由于垂体肿瘤引起的巨人症-高身材的鉴别诊断,医生应考虑的特征的分析仍然缺乏。

方法

在 MEDLINE 数据库中进行了英语原始文章的全面搜索(2021 年 12 月至 2022 年 3 月)。我们选择了所有关于过渡年龄高身材和巨人症的流行病学、遗传方面和诊断的研究。

结果

通常,高身材的转诊并不像预期的那么频繁,因为大多数病例是家族性的,父母和患者通常不会向内分泌科医生报告。由于缺乏这种高身材的经验,熟悉许多罕见的过度生长综合征是必不可少的。在过渡年龄,区分具有高体质身高的青少年和具有巨人症的青少年非常重要但具有挑战性。垂体巨人症在过渡年龄是一种罕见的疾病,但它的全身并发症对未来的健康非常重要。内分泌评估对于确定需要激素治疗的情况至关重要,以便可以尽早进行治疗,从而提高该年龄段患者的生活质量并预防其合并症。

结论

我们综述的目的是提供一种实用的临床方法,以便尽早识别可能患有巨人症的青少年。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8122/10965707/fc84ebdc2c68/40618_2023_2223_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8122/10965707/17bbbb51891b/40618_2023_2223_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8122/10965707/fc84ebdc2c68/40618_2023_2223_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8122/10965707/17bbbb51891b/40618_2023_2223_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8122/10965707/fc84ebdc2c68/40618_2023_2223_Fig2_HTML.jpg

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