Saari Viivi, Alanko Venla, Holopainen Elina, Mäkitie Outi, Laakso Saila
Children's Hospital and Paediatric Research Centre, Helsinki University Hospital, Helsinki 00290, Finland.
Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki 00290, Finland.
J Clin Endocrinol Metab. 2025 Jan 21;110(2):e257-e265. doi: 10.1210/clinem/dgae209.
Subjects with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) have subnormal adult height. There are several potential APECED-related risk factors for suboptimal height attainment during childhood.
To determine the growth patterns in children with APECED.
This retrospective longitudinal study included 59 children with APECED from the Finnish national APECED cohort and assessed length/height and weight z-scores from birth to the end of prepuberty.
Collectively, 59 children (30 [51%] girls) were included. Their median birth weight z-score (-0.60) was below the population average; 12 (20%) patients were born small for gestational age. Height attainment progressively declined from birth until the end of prepuberty (z-score -1.95), whereas weight-for-height z-score did not (+0.26). Of the 59 patients, 38 (64%) had all height z-scores below 0 during prepuberty, and 7 (12%) had z-scores below -2.0. Age at the end of prepuberty, number of APECED manifestations, duration of glucocorticoid treatment, and growth hormone deficiency correlated negatively with height z-score at the end of prepuberty (P < .0001; P = .041; P = .013; P = .034, respectively).
Children with APECED had a progressive growth impairment from birth through prepuberty. Multiple predisposing risk factors were recognized, including disease severity and growth hormone deficiency. Timely interventions are needed to ensure optimal height attainment and new treatment options need to be developed.
患有自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良（APECED）的患者成年身高低于正常水平。儿童期身高增长未达最佳水平存在多种与APECED相关的潜在风险因素。
确定APECED患儿的生长模式。
这项回顾性纵向研究纳入了芬兰国家APECED队列中的59名APECED患儿，评估了从出生到青春期前结束时的身长/身高和体重Z评分。
总共纳入了59名儿童（30名[51%]为女孩）。他们出生体重的中位数Z评分（-0.60）低于人群平均水平；12名（20%）患者出生时为小于胎龄儿。从出生到青春期前结束，身高增长逐渐下降（Z评分为-1.95），而身高别体重Z评分则没有下降（+0.26）。在这59名患者中，38名（64%）在青春期前所有身高Z评分均低于0，7名（12%）Z评分低于-2.0。青春期前结束时的年龄、APECED表现的数量、糖皮质激素治疗的持续时间以及生长激素缺乏与青春期前结束时的身高Z评分呈负相关（分别为P <.0001；P =.041；P =.013；P =.034）。
APECED患儿从出生到青春期前存在逐渐加重的生长障碍。识别出了多种易感风险因素，包括疾病严重程度和生长激素缺乏。需要及时进行干预以确保达到最佳身高，并且需要开发新的治疗方案。
