{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T18:18:09Z","timestamp":1783448289045,"version":"3.55.0"},"reference-count":5,"publisher":"Bioscientifica","issue":"4","license":[{"start":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T00:00:00Z","timestamp":1781308800000},"content-version":"vor","delay-in-days":255,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["journals.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,10,1]]},"abstract":"<jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>Webb\u2013Dattani syndrome (WEDAS) is an extremely rare autosomal recessive disorder caused by pathogenic variants in the ARNT2 gene. It is characterized by a triad of congenital hypopituitarism, structural brain abnormalities, and multisystem developmental defects. We report the case of a 17-year-old girl with WEDAS who presented with global developmental delay, panhypopituitarism, and arginine vasopressin (AVP) deficiency, formerly known as central diabetes insipidus with adipsia, visual impairment, renal anomalies, and spastic quadriplegia. Her endocrine profile revealed deficiencies in ACTH, TSH, and ADH, and gonadotropins, with a possible growth hormone deficiency. Management included hormone replacement with hydrocortisone, levothyroxine, and desmopressin, as well as fluid regulation and supportive care. Despite multiple hospitalizations due to complications including hypernatremia and infections, the patient survived into adolescence \u2013 the longest reported survival in this condition to date \u2013 before passing away at age 17. This case expands the known clinical phenotype of WEDAS, emphasizing the importance of early recognition, genetic testing, and a multidisciplinary approach to care for affected individuals, particularly in consanguineous populations where the syndrome may be underdiagnosed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                  <\/jats:sec>","DOI":"10.1530\/edm-25-0114","type":"journal-article","created":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T12:10:24Z","timestamp":1765282224000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":0,"title":["Webb\u2013Dattani syndrome in a 17-year-old girl"],"prefix":"10.1530","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-4477-7989","authenticated-orcid":true,"given":"Jamilah Saleh","family":"Alyami","sequence":"first","affiliation":[{"name":"1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-6701-5252","authenticated-orcid":true,"given":"Wael Mohammad","family":"Almistehi","sequence":"additional","affiliation":[{"name":"1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-3073-4732","authenticated-orcid":true,"given":"Khalid Ibrahim","family":"Alkanhal","sequence":"additional","affiliation":[{"name":"2"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","published-online":{"date-parts":[[2025,11,25]]},"reference":[{"key":"2026070713545688800_bib1","doi-asserted-by":"crossref","first-page":"3096","DOI":"10.1093\/brain\/awt218","article-title":"ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies","volume":"136","author":"Webb","year":"2013","journal-title":"Brain"},{"key":"2026070713545688800_bib2","doi-asserted-by":"crossref","first-page":"071","DOI":"10.1055\/s-0037-1621720","article-title":"Webb\u2013Dattani syndrome: report of a Saudi Arabian family with a novel homozygous mutation in the ARNT2 gene","volume":"17","author":"Al-Sannaa","year":"2019","journal-title":"J Pediatr Neurol"},{"key":"2026070713545688800_bib3","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1210\/er.2009-0008","article-title":"Genetic regulation of pituitary gland development in human and mouse","volume":"30","author":"Kelberman","year":"2009","journal-title":"Endocr Rev"},{"key":"2026070713545688800_bib4","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1006\/geno.2000.6466","article-title":"Identification of mesoderm development (mesd) candidate genes by comparative mapping and genome sequence analysis","volume":"72","author":"Wines","year":"2001","journal-title":"Genomics"},{"key":"2026070713545688800_bib5","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000341148","article-title":"Septo-optic dysplasia: antenatal risk factors and clinical features in a regional study","volume":"78","author":"Atapattu","year":"2012","journal-title":"Horm Res Paediatr"}],"container-title":["Endocrinology, Diabetes &amp; Metabolism Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2025\/4\/EDM-25-0114.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2025\/4\/EDM-25-0114.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/journals.bioscientifica.com\/edm\/article-pdf\/doi\/10.1530\/EDM-25-0114\/502531\/edm-25-0114.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/journals.bioscientifica.com\/edm\/article-pdf\/doi\/10.1530\/EDM-25-0114\/502531\/edm-25-0114.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T17:55:02Z","timestamp":1783446902000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.bioscientifica.com\/edm\/article\/2025\/4\/e250114\/75417\/Webb-Dattani-syndrome-in-a-17-year-old-girl"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,1]]},"references-count":5,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,10,1]]}},"URL":"https:\/\/doi.org\/10.1530\/edm-25-0114","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,1]]},"article-number":"e250114"}}