{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T12:43:52Z","timestamp":1765889032596,"version":"3.40.5"},"reference-count":18,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2023]]},"abstract":"<jats:p>Introduction: There are two major categories of peroxisomal disorders (PDs): peroxisomal biogenesis disorders (PBDs) due to defects in peroxisomal (PEX) genes and deficiency of other peroxisomal enzymes (such as D-bifunctional enzyme deficiency due to HSD17B4). PDs are characterized by abnormal elevations of very-long-chain fatty acids (VLCFA). We aimed to evaluate the clinical phenotype of adrenal insufficiency in patients with PD and to assess any genotype-phenotype correlations with adrenal insufficiency. Case Presentation: We performed a retrospective electronic medical record review at a single university medical center, of data over 12 years and identified 7 patients with PD. Of the 7 patients identified, 6 patients had a diagnosis of PBD and one had a single peroxisomal enzyme deficiency, HSD17B4. The average age of the patients at diagnosis were 0.61 \u00b1 0.66 years. Four patients (66.7%) had primary adrenal insufficiency: 3, out of the 4, patients had elevated baseline ACTH. Three patients failed to have increased response after the Cortrosyn\u2122 stimulation test. Three patients were on daily hydrocortisone replacement, and 1 patient was on stress-dose hydrocortisone only as needed. Specific genetic variant analysis revealed that all the 3 patients with PBD and adrenal insufficiency who were on steroid supplementation had the compound heterozygous pathogenic variant in exon 13 of PEX1 c.2097dupT (p.Ile700Tyrfs*42) and c.2528G&gt;A (p.Gly843Asp), while the 1 patient with peroxisomal enzyme deficiency and adrenal insufficiency had compound heterozygous pathogenic variants in HSD17B4 c.1369A&gt;T (p.Asn457Tyr) and c.1210 \u2212 1G&gt;A (splice acceptor). Two of these patients with PEX1 variants also required mineralocorticoid supplementation. The 3 PBD patients without adrenal insufficiency did not have a PEX1 variant. Discussion\/Conclusion: Primary adrenal insufficiency is common in patients with PD. Based on our data, patients with the compound heterozygous PEX1 pathogenic variants of exon 13 (c.2097dupT and c.2528G&gt;A) tend to have adrenal insufficiency. Aldosterone deficiency, though rare, can occur in PD. <\/jats:p>","DOI":"10.1159\/000529126","type":"journal-article","created":{"date-parts":[[2023,1,17]],"date-time":"2023-01-17T22:00:36Z","timestamp":1673992836000},"page":"439-445","source":"Crossref","is-referenced-by-count":5,"title":["Adrenal Insufficiency in Peroxisomal Disorders: A Single Institution Case Series"],"prefix":"10.1159","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4892-9172","authenticated-orcid":false,"given":"Charles","family":"Gagnon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna C.E.","family":"Hurst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ambika P.","family":"Ashraf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2023,1,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-198905000-00005"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2006.09.010"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2006.08.010"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.135.1.1"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/ng0497-381"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113292"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20664"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0133-5"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.262"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/BF01802037"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1172\/jci110963"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/S0344-0338(11)80366-3"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007\/BF00734851"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2012.03.058"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuro.2011.10.007"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn066"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.3390\/biomedicines9121826"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/hrp\/article-pdf\/96\/4\/439\/3992533\/000529126.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/hrp\/article-pdf\/96\/4\/439\/3992533\/000529126.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:10:45Z","timestamp":1745421045000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000529126"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"references-count":18,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2023,8,28]]},"published-print":{"date-parts":[[2023,9,18]]}},"URL":"https:\/\/doi.org\/10.1159\/000529126","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2023]]}}}