{"doi":"10.1210/clinem/dgad286","title":"Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy","abstract":"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.","journal":"The Journal of Clinical Endocrinology & Metabolism","year":2023,"id":351177,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":9,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9688,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":288189,"name":"Natalie Grant","orcid":"0000-0003-2753-7134","position":1,"is_corresponding":false},{"id":380896,"name":"Swathi Sethuram","orcid":"0000-0002-7101-5045","position":2,"is_corresponding":false},{"id":925730,"name":"Amanda Nagy","orcid":"0000-0001-8116-4805","position":3,"is_corresponding":false},{"id":300191,"name":"Catherine Becker","orcid":null,"position":4,"is_corresponding":false},{"id":689403,"name":"Inderneel Sahai","orcid":"0000-0001-7020-4613","position":5,"is_corresponding":false},{"id":270863,"name":"Takara L. Stanley","orcid":"0000-0002-2336-2958","position":6,"is_corresponding":false},{"id":846998,"name":"Alyssa Halper","orcid":null,"position":7,"is_corresponding":false},{"id":298504,"name":"Florian Eichler","orcid":"0000-0001-6836-1089","position":8,"is_corresponding":false},{"id":1095875,"name":"Jonanlis Ramirez Alcantara","orcid":"0000-0002-5396-2102","position":0,"is_corresponding":true}],"reference_count":30,"raw_metadata":null,"created_at":"2026-07-19T01:12:41.740237Z","pmid":"37220095","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}