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

Marta Tenuta1, Biagio Cangiano2,3, Giulia Rastrelli4

  • 1Department of Experimental Medicine, Sapienza University, Rome, Italy.

Pediatric Blood & Cancer
|April 15, 2024
PubMed

Insights

Hemochromatosis (HC) can cause iron overload, leading to endocrine issues like growth and puberty problems in children and adolescents. Early diagnosis and expert collaboration are crucial for managing these lifelong health challenges.

Area of Science:

  • Pediatric Endocrinology
  • Hematology
  • Genetics

Background:

  • Hemochromatosis involves progressive iron accumulation, causing organ damage.
  • Endocrine complications, particularly affecting growth and puberty, are common in pediatric hemochromatosis.
  • Untreated HC can lead to significant long-term quality of life issues.

Purpose of the Study:

  • To provide guidance on diagnosing and managing growth and puberty disorders in pediatric hemochromatosis.
  • To review current literature and identify gaps in understanding and treatment.
  • To emphasize the need for multidisciplinary collaboration in managing pediatric hemochromatosis.

Main Methods:

  • Narrative review of existing literature.
  • Focus on endocrine complications in infancy and adolescence.
  • Synthesis of diagnostic and therapeutic strategies.

Main Results:

  • Delayed or abnormal puberty and impaired linear growth are key endocrine manifestations.
  • Diagnosis can be complex, requiring specialized endocrinological expertise.
  • Management requires a comprehensive approach addressing both iron overload and endocrine dysfunction.

Conclusions:

  • Timely diagnosis and intervention are critical for optimizing outcomes in pediatric hemochromatosis.
  • Collaboration between hematologists and endocrinologists is essential.
  • Further research is needed to address literature gaps and advance precision medicine for HC.

Keywords:
delayed pubertygrowth hormone deficiencyhemochromatosisiron overload diseaselinear growthpubertal developmentpubertythalassemiatransfusionstransition age

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