{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T05:47:49Z","timestamp":1791870469507,"version":"4.3.4"},"reference-count":28,"publisher":"The Endocrine Society","issue":"11","license":[{"start":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:00:00Z","timestamp":1791849600000},"content-version":"vor","delay-in-days":18,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Histiocytosis-lymphadenopathy plus syndrome (HLPS) is a rare inherited disorder caused by SLC29A3 variants. We report 2 Pakistani brothers with HLPS and markedly different clinical features despite identical genotypes. The 15-year-old had severe growth failure, facial dysmorphism, insulin-dependent diabetes, hypogonadotropic hypogonadism, and coarctation of the aorta (CoA) requiring balloon dilatation. Genetic testing identified SLC29A3 and PYGM variants, indicating concurrent HLPS and McArdle disease. His 20-year-old brother had insulin-dependent diabetes and celiac disease from age 3, later developing hypertension, proteinuria, and characteristic skin changes. This case highlights marked intrafamilial variability in HLPS and identifies CoA as a rare cardiovascular feature. It also supports comprehensive genetic testing in patients with early-onset diabetes and multisystem disease.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag289","type":"journal-article","created":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T11:55:19Z","timestamp":1790855719000},"source":"Crossref","is-referenced-by-count":0,"title":["Aortic coarctation and McArdle disease in histiocytosis-lymphadenopathy plus syndrome: expanding the\n                    <i>SLC29A3<\/i>\n                    spectrum"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-5811-5489","authenticated-orcid":false,"given":"Bushra","family":"Rehman","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Child Health, Aga Khan University , Karachi 74800 ,","place":["Pakistan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-5760-2327","authenticated-orcid":false,"given":"Syed Muhammad Dayyan","family":"Hassan","sequence":"additional","affiliation":[{"name":"Medical College, Aga Khan University , Karachi 74800 ,","place":["Pakistan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Nasheet","family":"Sagri","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, Aga Khan University , Karachi 74800 ,","place":["Pakistan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salman","family":"Kirmani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, Aga Khan University , Karachi 74800 ,","place":["Pakistan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-2565-2920","authenticated-orcid":false,"given":"Muzna","family":"Arif","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, Aga Khan University , Karachi 74800 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