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Septo-optic dysplasia/optic nerve hypoplasia: data from the National Cooperative Growth Study (NCGS)
Katrina L Parker1, Joanne Julius Hunold, Sandra L Blethen
1Department of Pediatrics, University of Alabama at Birmingham, USA. kparker@peds.uab.edu
Insights
Growth hormone (GH) therapy is safe and effective for children with septo-optic dysplasia (SOD), improving their height and addressing pituitary hormone deficiencies. This study highlights GH treatment benefits for SOD patients.
Area of Science:
- Pediatric Endocrinology
- Genetics and Developmental Biology
Background:
- Septo-optic dysplasia (SOD) is a congenital disorder often associated with endocrine abnormalities, particularly growth hormone deficiency.
- Children with SOD frequently present with short stature, necessitating evaluation and potential treatment.
- Growth hormone (GH) therapy is a standard treatment for various forms of short stature in children.
Purpose of the Study:
- To evaluate the characteristics of children with SOD referred for short stature assessment.
- To assess the efficacy and safety of growth hormone (GH) therapy in children with SOD.
- To compare endocrine profiles and growth outcomes in SOD patients receiving GH treatment versus those not treated.
Main Methods:
- Analysis of data from the National Cooperative Growth Study (NCGS) involving children with SOD (Substudy 8) and a larger cohort of children treated with GH.
- Comparison of demographic and clinical characteristics between children with SOD and other children evaluated for short stature.
- Assessment of pituitary hormone deficiencies and adult height outcomes in GH-treated SOD patients.
Main Results:
- Children with SOD were younger, less severely short, and more often female compared to other short stature referrals.
- GH-treated SOD patients experienced a significant average gain in height standard deviation score (SDS) of 1.17.
- GH therapy was associated with increased rates of diagnosed thyroid and adrenocorticotropic hormone (ACTH) deficiencies, indicating improved detection and management, and was well-tolerated.
Conclusions:
- Growth hormone therapy is a safe and effective treatment for improving linear growth in children with septo-optic dysplasia.
- GH treatment aids in identifying and managing associated pituitary hormone deficiencies in SOD patients.
- The findings support the use of GH therapy for optimizing growth outcomes in pediatric patients with SOD.
Abstract:
We analyzed data from 65 children with septo-optic dysplasia (SOD) referred for evaluation and followed in the National Cooperative Growth Study (NCGS) Substudy 8 and from 758 children treated with growth hormone (GH) and followed in the NCGS core study. Compared to other children referred for evaluation of short stature, children with SOD were younger (mean age 3.7 +/- 3.6 vs 8.6 +/- 4.9 years), had less severe short stature (mean +/- SD height SDS -1.80 +/- 1.64 vs -2.17 +/- 0.95), and were more likely to be female (46% F vs 31% M). Children with SOD who received GH were older and shorter than those referred and untreated, but the gender distribution was similar. Other pituitary hormone deficits were reported in untreated patients, including thyroid hormone deficiencies (8%) and adrenocorticotropic hormone (ACTH) deficiency (3%), as compared to 27% and 24%, respectively, in GH-treated children. Data on adult height were available for 71 patients, who showed an average gain in height SDS of 1.17 +/- 1.49. GH therapy was well tolerated in children with SOD.