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Impact of Newborn Screening on Adult Height in Patients With Congenital Adrenal Hyperplasia (CAH)
Heike Hoyer-Kuhn1, Alexander J Eckert2, Gerhard Binder3
1Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.
Insights
Newborn screening for congenital adrenal hyperplasia (CAH) may improve near-adult height (NAH) in males and those with simple-virilizing CAH. Early detection through screening shows potential benefits for growth outcomes in specific CAH patient groups.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Metabolic Disorders
Background:
- Classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency presents treatment challenges, often compromising linear growth and adult height.
- Most existing data on growth outcomes were collected before the widespread implementation of newborn screening for CAH.
Purpose of the Study:
- To retrospectively analyze body height in patients with classical CAH diagnosed before and after the establishment of newborn screening.
- To assess the impact of newborn screening on near-adult height (NAH) in relation to target height (TH) in CAH patients.
Main Methods:
- Retrospective analysis of 600 classical CAH patients from the German CAH registry, including data on NAH, TH, and newborn screening status.
- Utilized a linear regression model, adjusted for sex and phenotype, to evaluate the effects of newborn screening on NAH.
- Patients received hydrocortisone with or without fludrocortisone treatment.
Main Results:
- Newborn screening was performed in 16.8% of patients (101/600).
- TH-corrected NAH was closer to 0 in screened patients (-0.25 SDS) compared to unscreened patients (-0.44 SDS), though not statistically significant (P = .069).
- Screening significantly improved NAH in male CAH patients (P = .033) and those with simple-virilizing CAH (P = .034), but not in females or patients with salt-wasting CAH.
Conclusions:
- Newborn screening for CAH is associated with improved near-adult height in male patients.
- Screening demonstrates a positive effect on growth outcomes for patients with the simple-virilizing form of CAH.
- Early detection via newborn screening may offer therapeutic advantages for specific subgroups of CAH patients.
Context:
Treatment of children with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is challenging. Linear growth and adult height are compromised according to recent publications. However, most of these data were obtained in the era before CAH newborn screening.
Design:
Body height of patients with classical CAH diagnosed before and after the establishment of newborn screening were analyzed retrospectively.
Patients And Methods:
We identified 600 patients with classical CAH (227 male) with data on near-adult height (NAH), target height (TH), and information on newborn screening from the electronic German CAH registry (German Society for Paediatric Endocrinology and Diabetology). Newborn screening was performed in 101 (16.8%) patients. All patients received hydrocortisone with or without fludrocortisone.To assess the effects of newborn screening, a linear regression model adjusted/stratified for sex and phenotype was used (SAS 9.4).
Results:
TH corrected NAH (mean; 95% confidence interval) was closer to 0 in patients with CAH and newborn screening [-0.25 standard deviation score (SDS); -0.44 to -0.06] than in patients without newborn screening (-0.44 SDS; -0.52 to -0.36) (P = .069). Screening had no effect on NAH in female patients. In male patients, NAH was significantly better (P = .033) with screening than without screening. After stratifying for CAH phenotype, screening did not affect the NAH of patients with salt-wasting CAH. Patients with simple-virilizing CAH had a significantly better cNAH (P = .034) with screening (0.15 SDS; -0.28-0.59) than without screening (-0.35 SDS; -0.52 to -0.18).
Conclusions:
Our data suggest that newborn screening might be associated with improved NAH in male CAH patients and in patients with simple-virilizing CAH.
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