Adrenal disease

Impact of Newborn Screening on Adult Height in Patients With Congenital Adrenal Hyperplasia (CAH)

J Clin Endocrinol MetabPublished Retrospective cohort study

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

OutcomeP value
NAH in male patientsNAH significantly better with screeningP = 0.033
cNAH in simple-virilizing CAHcNAH significantly better with screeningP = 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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