Impact of Newborn Screening on Adult Height in Patients With Congenital Adrenal Hyperplasia (CAH)
Authors' conclusion
Our data suggest that newborn screening might be associated with improved NAH in male CAH patients and in patients with simple-virilizing CAH.
Study context
- Population
- Patients with classical CAH due to 21-hydroxylase deficiency with data on near-adult height, target height and newborn screening, German CAH registry; all received hydrocortisone with or without fludrocortisone227 male
- Participants
- 600 patients
- Exposure
- Newborn screening vs no newborn screening
- Newborn screeningn = 101
- Outcome
- Target height-corrected near-adult height (SDS)
Methodological detailsregistry-based, linear regression adjusted/stratified for sex and phenotype
- Registry-based
- Linear regression adjusted/stratified for sex and phenotype
Main finding
As reported in the abstract
Target height (TH)-corrected NAH
Newborn screening
−0.25
mean · 95% CI −0.44–-0.06 · standard deviation score (SDS)
Without newborn screening
−0.44
mean · 95% CI −0.52–-0.36 · SDS
P = 0.069
Observational data: associations, not effects.
Further findings
| Outcome | P value |
|---|---|
| NAH in male patientsNAH significantly better with screening | P = 0.033 |
| cNAH in simple-virilizing CAHcNAH significantly better with screening | P = 0.034 |
- cNAH in simple-virilizing CAH — cNAH with screening, simple-virilizing CAH
- 0.15 SDS; −0.28-0.59
- cNAH in simple-virilizing CAH — cNAH without screening, simple-virilizing CAH
- −0.35 SDS; −0.52 to −0.18
Near-adult height (NAH) in female patients
- Screening had no effect on NAH in female patients
NAH in salt-wasting CAH
- After stratifying for CAH phenotype, screening did not affect NAH in salt-wasting CAH
Original publication
Impact of Newborn Screening on Adult Height in Patients With Congenital Adrenal Hyperplasia (CAH). J Clin Endocrinol Metab. Published 31 May 2023. doi:10. 1210/ clinem/ dgad307
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