Progressive Impairment of Prepubertal Growth in Children With APECED

Abstract Context 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. Objective To determine the growth patterns in children with APECED. Methods 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. Results 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). Conclusion 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.