Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy
Authors' conclusion
Our results suggest that implementing NBS for ALD leads to significantly earlier detection of AI and earlier initiation of glucocorticoid supplementation in boys affected by ALD.
Study context
- Population
- Pediatric patients with adrenoleukodystrophy (ALD) seen in a leukodystrophy clinic at an academic medical center, May 2006–January 2022; 94% boys94% boys
- Participants
- 116 patients
- Exposure
- ALD diagnosed by newborn screening (NBS) vs outside the newborn period
- NBSn = 31
- Outside newborn periodn = 85reference
- Outcome
- Time to diagnosis of AI (age at AI diagnosis) in boys with ALD
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
Age at AI diagnosis in boys
NBS
6.7
median · IQR 3.9–12.12 · months
Outside newborn period
6.05
median · IQR 3.74–8.35 · years
P < 0.001
Observational data: associations, not effects.
Further findings
Prevalence of adrenal insufficiency (AI) among boys
- Prevalence of AI among boys
- 74%
ACTH and peak cortisol at initiation of maintenance glucocorticoids
- Significant differences in ACTH and peak cortisol between NBS and outside newborn period
Original publication
Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy. J Clin Endocrinol Metab. Published 23 May 2023. doi:10.
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