{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:12:52Z","timestamp":1760058772617,"version":"build-2065373602"},"reference-count":19,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T00:00:00Z","timestamp":1745712000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Reports"],"abstract":"<jats:p>Background and Clinical Significance: Joubert syndrome (OMIM #213300) is a rare predominantly autosomal recessive inherited condition characterized by the classic cerebellar vermis hypoplasia and brainstem anomalies (also known as the \u201cmolar tooth sign\u201d), hypotonia, and developmental delays. Joubert syndrome is a ciliopathy that affects multiple systems including the central nervous system, eyes, kidneys, liver, respiratory, musculoskeletal system, cardiovascular system, and endocrine system. Endocrine abnormalities are not uncommon in Joubert syndrome, such as growth hormone deficiency, thyroid hormone deficiency, central diabetes insipidus, hypopituitarism, micropenis, and obesity. However, a new-onset type 1 diabetes in childhood is not common in Joubert syndrome. Case Presentation: Herein, we report a case of a 7-year-old male with a history of Joubert syndrome presenting with polydipsia, polyuria, weight loss, and hyperglycemia who was diagnosed with type 1 diabetes. Conclusions: While diabetes has been reported as a rare complication in Joubert syndrome, this is the first case report of Joubert syndrome to accentuate new-onset type 1 diabetes as an endocrine complication.<\/jats:p>","DOI":"10.3390\/reports8020057","type":"journal-article","created":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T03:50:43Z","timestamp":1746071443000},"page":"57","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication"],"prefix":"10.3390","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-7278-8242","authenticated-orcid":false,"given":"Yutaka","family":"Furuta","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erica T.","family":"Nelson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA"},{"name":"Department of Pediatrics, Division of Genetic and Genomic Medicine, Nationwide Children\u2019s Hospital, Columbus, OH 43205, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7093-8844","authenticated-orcid":false,"given":"Rory J.","family":"Tinker","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela R.","family":"Grochowsky","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/S1474-4422(13)70136-4","article-title":"Joubert syndrome: Congenital cerebellar ataxia with the molar tooth","volume":"12","author":"Romani","year":"2013","journal-title":"Lancet Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1136\/jmedgenet-2015-103087","article-title":"Joubert syndrome: A model for untangling recessive disorders with extreme genetic heterogeneity","volume":"52","author":"Dempsey","year":"2015","journal-title":"J. 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Case Rep."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1080\/13816810.2021.1888132","article-title":"Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model","volume":"42","author":"Aleman","year":"2021","journal-title":"Ophthalmic Genet."}],"container-title":["Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2571-841X\/8\/2\/57\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:22:49Z","timestamp":1760030569000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2571-841X\/8\/2\/57"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,27]]},"references-count":19,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,6]]}},"alternative-id":["reports8020057"],"URL":"https:\/\/doi.org\/10.3390\/reports8020057","relation":{},"ISSN":["2571-841X"],"issn-type":[{"type":"electronic","value":"2571-841X"}],"subject":[],"published":{"date-parts":[[2025,4,27]]}}}