{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T17:27:34Z","timestamp":1783445254786,"version":"3.54.6"},"reference-count":22,"publisher":"Walter de Gruyter GmbH","issue":"7","funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["21K11701"],"award-info":[{"award-number":["21K11701"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0735_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Alstr\u00f6m syndrome (AS, OMIM #203800) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in\n                      <jats:italic>ALMS1<\/jats:italic>\n                      , characterized by obesity, cardiomyopathy, retinal dystrophy, sensorineural hearing loss, and progressive hepatic and renal involvement. We report a pediatric case of AS complicated by growth hormone deficiency (GHD), focusing on the clinical course and potential metabolic effects of growth hormone (GH) replacement therapy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0735_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A 13-year-old girl with AS presented with severe dyslipidemia, including hypertriglyceridemia (727\u202fmg\/dL), elevated total cholesterol (251\u202fmg\/dL), and low high-density lipoprotein cholesterol (23\u202fmg\/dL), together with dilated cardiomyopathy. She was diagnosed with GHD at 3\u00a0years of age, with a height of\u00a0\u22123.6 SD. GH replacement therapy led to sustained improvement in linear growth, reaching\u00a0\u22121.9 SD, and was associated with long-term maintenance of lipid parameters within the normal range. Whole-exome sequencing identified a previously unreported homozygous frameshift variant in\n                      <jats:italic>ALMS1<\/jats:italic>\n                      (NM_001378454.1:c.5763del; p.(Phe1921Leufs*18)).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0735_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This case suggests that GH replacement therapy may contribute to improved lipid metabolism in patients with AS complicated by GHD. In addition, it expands the mutational spectrum of\n                      <jats:italic>ALMS1<\/jats:italic>\n                      and highlights the potential metabolic benefits of early endocrine intervention in\u00a0AS.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0735","type":"journal-article","created":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T22:54:09Z","timestamp":1775775249000},"page":"727-732","source":"Crossref","is-referenced-by-count":0,"title":["A case of Alstr\u00f6m syndrome with growth hormone deficiency and dyslipidemia: a novel homozygous frameshift variant of\n                    <i>ALMS1<\/i>\n                    c.5763del"],"prefix":"10.1515","volume":"39","author":[{"given":"Takeshi","family":"Goda","sequence":"first","affiliation":[{"name":"Department of Pediatrics , 12898 Kyoto Prefectural University of Medicine , Kyoto , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3678-9918","authenticated-orcid":false,"given":"Hisakazu","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 12898 Kyoto Prefectural University of Medicine , Kyoto , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiro","family":"Kawabe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 12898 Kyoto Prefectural University of Medicine , Kyoto , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kitaro","family":"Kosaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 12898 Kyoto Prefectural University of Medicine , Kyoto , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Itoi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 12898 Kyoto Prefectural University of Medicine , Kyoto , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Kawai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 12898 Kyoto Prefectural University of Medicine , Kyoto , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoru","family":"Sugimoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 12898 Kyoto Prefectural University of Medicine , Kyoto , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Iehara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 12898 Kyoto Prefectural University of Medicine , Kyoto , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,4,7]]},"reference":[{"key":"2026070716574680046_j_jpem-2025-0735_ref_001","doi-asserted-by":"crossref","unstructured":"Joy, T, Cao, H, Black, G, Malik, R, Charlton-Menys, V, Hegele, RA, et al.. 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