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儿童期与身材高大相关疾病的流行病学:一项为期20年的出生队列研究。

Epidemiology of disorders associated with tall stature in childhood: A 20-year birth cohort study.

作者信息

Harju Samuli, Saari Antti, Sund Reijo, Sankilampi Ulla

机构信息

Institute of Clinical Medicine, School of Medicine, University of Eastern Finland, Kuopio, Finland.

Department of Paediatrics, Kuopio University Hospital, Kuopio, Finland.

出版信息

PLoS One. 2025 Apr 15;20(4):e0321798. doi: 10.1371/journal.pone.0321798. eCollection 2025.

Abstract

Many primary and secondary disorders in childhood may cause tall stature (height of +2 standard deviations above the mean height for age and sex). Growth-monitoring programs are aimed at early detection of such disorders to avoid permanent health consequences and support children's wellbeing. However, age- and sex-specific data on the incidence of disorders associated with tall stature are scarce. This retrospective population-based cohort study aims to specify the epidemiological data that are needed to develop better diagnostic practices. The study population included 1 144 503 children (51% boys) born in Finland between 1998 and 2017 with 16.5 million register notifications including medical diagnoses. The first occurrences of several primary or secondary disorders associated with tall stature were identified from multiple registers. The age- and sex-specific cumulative incidences (CMIs) from birth until 18 years of age and the median age at diagnosis were determined. A total of 1641 children (0.14% of the whole birth cohort, 44% boys) had a primary or secondary disorder associated with tall stature. Klinefelter syndrome (47,XXY karyotype) was the most common primary disorder (median age at diagnosis: 8.4 years, CMI at 18 years: 1/2146 boys). Marfan syndrome (5.9 years, 1/4307 girls; 7.1 years, 1/5202 boys) and congenital overgrowth syndromes (1.7 years, 1/4717 girls; 1.8 years; 1/4925 boys) did not have a predilection for either sex. Secondary conditions such as central precocious puberty (1/894 girls at 8 years, and 1/4856 boys at 9 years) and hyperthyroidism (15.1 years, 1/936 girls; 14.4 years, 1/5675 boys) were more common among girls. Disorders associated with tall stature are rare and are frequently underdiagnosed in childhood. We suggest that during early childhood, the focus of growth screening should be particularly on Marfan syndrome and congenital overgrowth syndromes, with the addition of Klinefelter syndrome and central precocious puberty thereafter.

摘要

儿童期的许多原发性和继发性疾病可能导致身材高大(身高高于年龄和性别的平均身高2个标准差)。生长监测计划旨在早期发现此类疾病,以避免永久性健康后果并促进儿童的健康。然而,关于与身材高大相关疾病发病率的年龄和性别特异性数据却很匮乏。这项基于人群的回顾性队列研究旨在明确制定更好的诊断方法所需的流行病学数据。研究人群包括1998年至2017年在芬兰出生的1144503名儿童(51%为男孩),有包括医学诊断在内的1650万条登记通知。从多个登记处确定了几种与身材高大相关的原发性或继发性疾病的首次发病情况。确定了从出生到18岁的年龄和性别特异性累积发病率(CMIs)以及诊断时的中位年龄。共有1641名儿童(占整个出生队列的0.14%,44%为男孩)患有与身材高大相关的原发性或继发性疾病。克兰费尔特综合征(47,XXY核型)是最常见的原发性疾病(诊断时的中位年龄:8.4岁,18岁时的CMI:1/2146男孩)。马凡综合征(女孩为5.9岁,1/4307;男孩为7.1岁,1/5202)和先天性过度生长综合征(女孩为1.7岁,1/4717;男孩为1.8岁,1/4925)对任何一种性别都没有偏好。继发性疾病如中枢性性早熟(8岁时女孩为1/894,9岁时男孩为1/4856)和甲状腺功能亢进(女孩为15.1岁,1/936;男孩为14.4岁,1/5675)在女孩中更为常见。与身材高大相关的疾病很罕见,在儿童期经常被漏诊。我们建议在幼儿期,生长筛查的重点应特别放在马凡综合征和先天性过度生长综合征上,之后再加上克兰费尔特综合征和中枢性性早熟。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef56/11999151/40cb6be6e5af/pone.0321798.g001.jpg

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