Effect of long-term GH treatment in a patient with CHARGE association

Andrea Esposito, Maria Tufano, Iolanda Di Donato

  • 1Pediatric Section, Department of Medical Translational Sciences, University "Federico II" of Naples, Naples, Italy. salerno@unina.it.

Insights

Growth failure in CHARGE association can be treated with growth hormone (GH) therapy. This study reports the long-term effects of GH treatment on final height in a patient with CHARGE syndrome.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Developmental Biology

Background:

  • CHARGE association is a rare genetic disorder with complex congenital anomalies.
  • Growth failure is common in CHARGE association, often linked to feeding issues or other health problems.
  • Growth hormone (GH) deficiency is infrequently reported in CHARGE patients, with limited data on long-term treatment outcomes.

Observation:

  • A single patient diagnosed with CHARGE association and confirmed GH deficiency was studied.
  • The patient received growth hormone (GH) therapy starting at 3 years and 10 months of age.
  • Treatment continued until the patient reached their final adult height.

Findings:

  • This case provides the first report on the long-term efficacy of GH treatment in a patient with CHARGE association, extending to final height.
  • The study documents the treatment course and final height outcome in this specific patient scenario.
  • Detailed analysis of growth response and final height achieved with GH therapy is presented.

Implications:

  • This research highlights the potential benefit of GH therapy for growth failure in select CHARGE association patients.
  • Understanding long-term outcomes is crucial for optimizing treatment strategies in rare genetic syndromes.
  • Further research is warranted to establish evidence-based guidelines for GH use in CHARGE syndrome.

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