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Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy
Jonanlis Ramirez Alcantara1,2, Natalie R Grant3, Swathi Sethuram1,2
1Department of Pediatric Endocrinology, Massachusetts General Hospital, Boston, MA 02114, USA.
Insights
Newborn screening for adrenoleukodystrophy (ALD) significantly speeds up the diagnosis of adrenal insufficiency (AI) in boys. Early ALD detection via NBS allows for prompt treatment, improving health outcomes for affected children.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Adrenoleukodystrophy (ALD) affects males, carrying an 80% risk of life-threatening adrenal insufficiency (AI).
- Newborn screening (NBS) for ALD is available in 29 states, but its clinical impact on AI diagnosis remains unquantified.
Purpose of the Study:
- To determine if ALD newborn screening (NBS) implementation has reduced the time to adrenal insufficiency (AI) diagnosis in pediatric patients.
- To assess the effect of NBS on the clinical management of AI in boys with ALD.
Main Methods:
- Retrospective medical chart review of pediatric patients diagnosed with ALD.
- Inclusion criteria: patients seen at a leukodystrophy clinic between May 2006 and January 2022.
- Data extracted: ALD diagnosis, AI surveillance, diagnosis, and treatment timing in boys.
Main Results:
- 31% of patients were diagnosed via NBS; 74% of boys had AI.
- AI diagnosis was significantly earlier in NBS-diagnosed boys (median 6.7 months) compared to non-NBS diagnosed boys (median 6.05 years).
- Earlier NBS diagnosis correlated with significant differences in ACTH and cortisol levels at glucocorticoid initiation.
Conclusions:
- Implementing NBS for ALD facilitates earlier detection of AI in affected boys.
- Earlier AI diagnosis through NBS enables prompt glucocorticoid supplementation, potentially improving patient outcomes.
Context:
Males with adrenoleukodystrophy (ALD) have an 80% lifetime risk of developing adrenal insufficiency (AI), which can be life-threatening when undetected. Newborn screening (NBS) for ALD has been implemented in 29 states, yet the impact of NBS upon clinical management has not been reported.
Objective:
To investigate whether the implementation of NBS has altered the time to diagnosis of AI in children with ALD.
Design:
We conducted a retrospective medical chart review of pediatric patients with ALD.
Setting:
All patients were seen in a leukodystrophy clinic in an academic medical center.
Patients:
We included all pediatric patients with ALD who were seen between May 2006 and January 2022. We identified 116 patients (94% boys).
Main Outcome Measures:
We extracted information about ALD diagnosis in all patients and AI surveillance, diagnosis, and treatment in boys with ALD.
Results:
Thirty-one (27%) patients were diagnosed with ALD by NBS, and 85 (73%) were diagnosed outside the newborn period. The prevalence of AI among boys in our patient population was 74%. AI diagnosis was made significantly earlier in boys diagnosed with ALD by NBS than in boys diagnosed outside the newborn period (median [IQR] age of diagnosis = 6.7 [3.9, 12.12] months vs 6.05 [3.74, 8.35] years) (P < .001). When maintenance dose of glucocorticoids were initiated, there were significant differences in ACTH and peak cortisol levels in patients diagnosed by NBS and outside the newborn period.
Conclusions:
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.
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