Iron overload disorders: Growth and gonadal dysfunction in childhood and adolescence

Pediatr Blood Cancer. 2024 Jul;71(7):e30995. doi: 10.1002/pbc.30995. Epub 2024 Apr 14.

Abstract

Hemochromatosis (HC) is characterized by the progressive accumulation of iron in the body, resulting in organ damage. Endocrine complications are particularly common, especially when the condition manifests in childhood or adolescence, when HC can adversely affect linear growth or pubertal development, with significant repercussions on quality of life even into adulthood. Therefore, a timely and accurate diagnosis of these disorders is mandatory, but sometimes complex for hematologists without endocrinological support. This is a narrative review focused on puberty and growth disorders during infancy and adolescence aiming to offer guidance for diagnosis, treatment, and proper follow-up. Additionally, it aims to highlight gaps in the existing literature and emphasizes the importance of collaboration among specialists, which is essential in the era of precision medicine.

Keywords: delayed puberty; growth hormone deficiency; hemochromatosis; iron overload disease; linear growth; pubertal development; puberty; thalassemia; transfusions; transition age.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Gonadal Disorders / etiology
  • Growth Disorders* / etiology
  • Growth Disorders* / physiopathology
  • Hemochromatosis / diagnosis
  • Hemochromatosis / therapy
  • Humans
  • Iron Overload* / etiology
  • Male
  • Puberty / physiology