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Progressive Impairment of Prepubertal Growth in Children With APECED

Viivi Saari1,2, Venla Alanko1,2, Elina Holopainen2,3

  • 1Children's Hospital and Paediatric Research Centre, Helsinki University Hospital, Helsinki 00290, Finland.

The Journal of Clinical Endocrinology and Metabolism
|April 5, 2024
PubMed

Insights

Children with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) experience progressive growth impairment from birth through prepuberty. Risk factors like disease severity and growth hormone deficiency necessitate timely interventions for optimal height attainment.

Area of Science:

  • Pediatric Endocrinology
  • Genetics and Rare Diseases
  • Growth and Development

Background:

  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is associated with subnormal adult height.
  • Several risk factors may contribute to suboptimal height in children with APECED.

Purpose of the Study:

  • To investigate the growth patterns in children diagnosed with APECED.
  • To identify factors influencing height attainment in pediatric APECED patients.

Main Methods:

  • Retrospective longitudinal study of 59 children from the Finnish national APECED cohort.
  • Analysis of length/height and weight z-scores from birth to the end of prepuberty.

Main Results:

  • Children with APECED showed a progressive decline in height z-scores from birth to prepuberty (median z-score -1.95).
  • Factors negatively correlating with final height z-score included age at prepuberty, number of APECED manifestations, glucocorticoid treatment duration, and growth hormone deficiency.
  • 12% of patients were born small for gestational age, and 64% had height z-scores below 0 throughout prepuberty.

Conclusions:

  • Children with APECED exhibit significant, progressive growth impairment during childhood.
  • Disease severity and growth hormone deficiency are key risk factors for poor height attainment.
  • Urgent need for timely interventions and novel treatment strategies to improve growth outcomes in APECED.
Abstract

Keywords:
AIREautoimmunitychildhood chronic illnessgrowth failurepolyendocrinopathies

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