{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T14:53:31Z","timestamp":1790780011442,"version":"4.1.0"},"reference-count":11,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T00:00:00Z","timestamp":1709510400000},"content-version":"vor","delay-in-days":10,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Transaldolase deficiency is a rare autosomal recessive inborn error of carbohydrate metabolism caused by pathogenic\/likely pathogenic biallelic mutations in the TALDO1 gene. This disorder is characterized by multisystem involvement with variable phenotypes, including intrauterine growth restriction; dysmorphic features; abnormal skin; hepatosplenomegaly; cytopenia; and cardiac, renal, and endocrine abnormalities. Herein, we present two Emirati patients with hypergonadotropic hypogonadism due to transaldolase deficiency and variable phenotypes of systemic involvement.<\/jats:p>","DOI":"10.1210\/jcemcr\/luae028","type":"journal-article","created":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T16:26:17Z","timestamp":1709569577000},"source":"Crossref","is-referenced-by-count":6,"title":["Hypergonadotropic Hypogonadism Due to Transaldolase Deficiency: Two Cases and Literature Review"],"prefix":"10.1210","volume":"2","author":[{"given":"Akram","family":"Takaleh","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Tawam Hospital , Al Ain , United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nasser","family":"Abunamous","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Tawam Hospital , Al Ain , United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisha","family":"AlShamsi","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolic, Department of Paediatrics, Tawam Hospital , Al Ain , United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noura","family":"Alhassani","sequence":"additional","affiliation":[{"name":"Division of Endocrine and Diabetes, Department of Pediatrics, Tawam Hospital"},{"name":"Department of Paediatrics, College of Medicine and Health Science, United Arab Emirates University , Al Ain , United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0878-1123","authenticated-orcid":false,"given":"Raya","family":"Almazrouei","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Internal Medicine, Tawam Hospital , Al Ain , United Arab Emirates"},{"name":"Department of Internal Medicine, College of Medicine and Health Sciences, United Arab Emirates University , Al Ain , United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2024,3,4]]},"reference":[{"issue":"3","key":"2024032207464750100_luae028-B1","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1111\/brv.12140","article-title":"The return of metabolism: biochemistry and physiology of the pentose phosphate pathway","volume":"90","author":"Stincone","year":"2015","journal-title":"Biol Rev Camb Philos Soc"},{"issue":"6","key":"2024032207464750100_luae028-B2","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1080\/15216540701387188","article-title":"The pathogeensis of transaldolase deficiency","volume":"59","author":"Perl","year":"2007","journal-title":"IUBMB Life"},{"issue":"5","key":"2024032207464750100_luae028-B3","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1086\/320108","article-title":"Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway","volume":"68","author":"Verhoeven","year":"2001","journal-title":"Am J Hum Genet"},{"issue":"5","key":"2024032207464750100_luae028-B4","first-page":"713","article-title":"Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease","volume":"149","author":"Valayonnopoulos","year":"2006","journal-title":"Pediatrics"},{"issue":"12","key":"2024032207464750100_luae028-B5","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1007\/s00431-014-2261-2","article-title":"Clinical and molecular characteristics of two transaldolase-deficient patients","volume":"173","author":"Tylki-Szymanska","year":"2014","journal-title":"Eur J Pediatr"},{"issue":"1","key":"2024032207464750100_luae028-B6","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.ymgme.2009.01.016","article-title":"Transaldolase deficiency in two new patients with a relative mild phenotype","volume":"97","author":"Tylki-Szymanska","year":"2009","journal-title":"Mol Genet Metab"},{"issue":"1","key":"2024032207464750100_luae028-B7","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/jimd.12036","article-title":"Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients","volume":"42","author":"William","year":"2019","journal-title":"J Inherit Metab Dis"},{"key":"2024032207464750100_luae028-B8","doi-asserted-by":"crossref","first-page":"A621","DOI":"10.1210\/jendso\/bvac150.1289","article-title":"Reactive oxygen species in the development of gonadal failure in late-onset transaldolase deficiency","volume":"6","author":"Zangen","year":"2022","journal-title":"J Endocr Soc"},{"issue":"4","key":"2024032207464750100_luae028-B9","first-page":"1","article-title":"A rare cause of hypergonadotropic hypogonadism: transaldolase deficiency in two siblings","volume":"10","author":"YildiZ","year":"2023","journal-title":"J Clin Res Pediatr Endocrinol"},{"issue":"5","key":"2024032207464750100_luae028-B10","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1007\/s00431-014-2449-5","article-title":"Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability","volume":"174","author":"Al-Shamsi","year":"2015","journal-title":"Eur J Pediatr"},{"issue":"3","key":"2024032207464750100_luae028-B11","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1007\/s42000-020-00252-4","article-title":"Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway","volume":"20","author":"Lafci","year":"2021","journal-title":"Hormones (Athens)"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/2\/3\/luae028\/57020819\/luae028.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/2\/3\/luae028\/57020819\/luae028.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T10:21:40Z","timestamp":1711102900000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luae028\/7618552"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,23]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,2,23]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luae028","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,3]]},"published":{"date-parts":[[2024,2,23]]},"article-number":"luae028"}}