Short Children with CHARGE Syndrome: Do They Benefit from Growth Hormone Therapy?

Area of Science:

• Pediatric Endocrinology
• Genetics and Rare Diseases

Background:

• CHARGE syndrome is a rare genetic disorder often associated with short stature.
• Growth hormone (GH) deficiency is a potential comorbidity in children with CHARGE syndrome.
• Evaluating GH treatment efficacy is crucial for managing growth in affected children.

Purpose of the Study:

• To assess the impact of recombinant human growth hormone (rhGH) on growth parameters in children with CHARGE syndrome.
• To determine the safety and efficacy of rhGH therapy in this specific patient population.

Main Methods:

• A cohort of 51 children with CHARGE syndrome was identified from the Pfizer International Growth Database (KIGS).
• Growth hormone (GH) deficiency was evaluated in 33 children based on peak GH and IGF-I levels.
• A subgroup of 16 children was followed longitudinally for 2 years to monitor growth velocity and BMI changes during rhGH therapy.

Main Results:

• Children with CHARGE syndrome presented with reduced birth length and weight, and short stature at the initiation of GH therapy (height SDS -3.6).
• After a median of 2.7 years of GH treatment, height SDS improved significantly to -2.2.
• Longitudinal data showed a significant increase in height velocity (p < 0.05) over two years of GH therapy, with BMI remaining stable.

Conclusions:

• Recombinant growth hormone (GH) treatment demonstrates a positive effect on short-term growth velocity in children with CHARGE syndrome.
• Conventional doses of GH are effective in improving growth parameters for both the total cohort and the longitudinal group.
• GH therapy in children with CHARGE syndrome was found to be safe, with no reported adverse events.