Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy

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.