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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.
Abstract:
CHARGE association is characterized by ocular Coloboma, Heart malformations, choanal Atresia, Retardation of growth and development, Genital abnormalities and inner and external Ear abnormalities. Growth failure is a frequent find mainly associated with feeding difficulties or systemic diseases. To date, GH deficiency has been reported in only few patients with CHARGE association however long-term effects of GH treatment, up to final height, have never been reported. We describe a patient with CHARGE association and GH deficiency treated with GH from the age of 3 years and 10 months up to adult height.
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