{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T06:01:01Z","timestamp":1793944861906,"version":"4.8.0"},"reference-count":20,"publisher":"Walter de Gruyter GmbH","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,3,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0554_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Transaldolase deficiency (TALDO-D) is a rare autosomal recessive disorder of the pentose phosphate pathway, characterized by growth restriction, dysmorphism, cytopenia, with variable liver involvement.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0554_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      Herein, we report a rare case of TALDO-D who presented with primary amenorrhea, elevated gonadotrophins, and low\/undetectable estradiol levels, consistent with premature ovarian insufficiency. Molecular genetic analysis identified a homozygous frameshift variant in\n                      <jats:italic>TALDO1<\/jats:italic>\n                      (c.345dup), caused by a duplication.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0554_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This case expands the clinical spectrum of TALDO-D by highlighting its association with premature ovarian insufficiency. Transaldolase deficiency should be kept in mind in the differential diagnosis of patients with premature ovarian insufficiency, mainly in the presence of hepatomegaly, cytopenia or other multisystem involvement.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0554","type":"journal-article","created":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T06:20:50Z","timestamp":1765866050000},"page":"279-284","source":"Crossref","is-referenced-by-count":2,"title":["A rare metabolic cause of premature ovarian insufficiency: case report of transaldolase deficiency"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0598-3494","authenticated-orcid":false,"given":"\u00d6zge","family":"K\u00f6pr\u00fcl\u00fc","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology , Dr. Beh\u00e7et Uz Children\u2019s Education and Research Hospital , Izmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8867-0508","authenticated-orcid":false,"given":"Esra","family":"Er","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Metabolism and Nutrition , Dr. Beh\u00e7et Uz Children\u2019s Education and Research Hospital , Izmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2025,12,17]]},"reference":[{"key":"2026030907573156052_j_jpem-2025-0554_ref_001","doi-asserted-by":"crossref","unstructured":"Eshre, ASRM, CREWHIRL and IMS Guideline Group on POI, Panay, N, Anderson, RA, Bennie, A, Cedars, M, Davies, M, et al.. Evidence-based guideline: premature ovarian insufficiency\u2020\u2021. Climacteric 2024;27:510\u201320. https:\/\/doi.org\/10.1080\/13697137.2024.2423213.","DOI":"10.1080\/13697137.2024.2423213"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_002","doi-asserted-by":"crossref","unstructured":"Chon, SJ, Umair, Z, Yoon, MS. Premature ovarian insufficiency: past, present, and future. Front Cell Dev Biol 2021;9:672890. https:\/\/doi.org\/10.3389\/fcell.2021.672890.","DOI":"10.3389\/fcell.2021.672890"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_003","doi-asserted-by":"crossref","unstructured":"Jiao, X, Zhang, H, Ke, H, Zhang, J, Cheng, L, Liu, Y, et al.. Premature ovarian insufficiency: phenotypic characterization within different etiologies. J\u00a0Clin Endocrinol Metab 2017;102:2281\u201390. https:\/\/doi.org\/10.1210\/jc.2016-3960.","DOI":"10.1210\/jc.2016-3960"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_004","doi-asserted-by":"crossref","unstructured":"Er, E, A\u015f\u0131koval\u0131, S, \u00d6z\u0131\u015f\u0131k, H, Sa\u011fsak, E, G\u00f6k\u015fen, D, Onay, H, et al.. Investigation of the molecular genetic causes of non-syndromic primary ovarian \u0131nsufficiency by next generation sequencing analysis. Arch Endocrinol Metab 2024;68:e220475.","DOI":"10.20945\/2359-4292-2022-0475"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_005","doi-asserted-by":"crossref","unstructured":"Williams, M, Valayannopoulos, V, Altassan, R, Chung, WK, Heijboer, AC, Keng, WT, et al.. Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients. J\u00a0Inherit Metab Dis 2019;42:147\u201358. https:\/\/doi.org\/10.1002\/jimd.12036.","DOI":"10.1002\/jimd.12036"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_006","doi-asserted-by":"crossref","unstructured":"Yildiz, M, Onal, Z, Yesil, G, Goksu Kabil, T, Toksoy, G. A rare cause of hypergonadotropic hypogonadism: transaldolase deficiency in two siblings. J\u00a0Clin Res Pediatr Endocrinol 2023;17:97\u2013102.","DOI":"10.4274\/jcrpe.galenos.2023.2022-10-4"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_007","doi-asserted-by":"crossref","unstructured":"Takaleh, A, Abunamous, N, AlShamsi, A, Alhassani, N, Almazrouei, R. Hypergonadotropic hypogonadism due to transaldolase deficiency: two cases and literature review. JCEM Case Rep 2024;2:luae028. https:\/\/doi.org\/10.1210\/jcemcr\/luae028.","DOI":"10.1210\/jcemcr\/luae028"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_008","doi-asserted-by":"crossref","unstructured":"Verhoeven, NM, Huck, JHJ, Roos, B, Struys, EA, Salomons, GS, Douwes, AC, et al.. Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet 2001;68:1086\u201392. https:\/\/doi.org\/10.1086\/320108.","DOI":"10.1086\/320108"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_009","doi-asserted-by":"crossref","unstructured":"Banne, E, Meiner, V, Shaag, A, Katz-Brull, R, Gamliel, A, Korman, S, et al.. Transaldolase deficiency: a new case expands the phenotypic spectrum. In: Morava, E, Baumgartner, M, Patterson, M, Rahman, S, Zschocke, J, Peters, V, editors. JIMD Reports. Berlin, Heidelberg: Springer Berlin Heidelberg; 2015, vol 26:31\u20136 pp. https:\/\/doi.org\/10.1007\/8904_2015_474. [cited 2025 May 20] (JIMD Reports; vol. 26). Available from: https:\/\/link.springer.com\/10.1007\/8904_2015_474.","DOI":"10.1007\/8904_2015_474"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_010","doi-asserted-by":"crossref","unstructured":"Eyaid, W, Al Harbi, T, Anazi, S, Wamelink, MMC, Jakobs, C, Al Salammah, M, et al.. Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J\u00a0Inherit Metab Dis 2013;36:997\u20131004. https:\/\/doi.org\/10.1007\/s10545-012-9577-8.","DOI":"10.1007\/s10545-012-9577-8"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_011","doi-asserted-by":"crossref","unstructured":"Lipi\u0144ski, P, Paw\u0142owska, J, Stradomska, T, Ciara, E, Jankowska, I, Socha, P, et al.. Long-term systematic monitoring of four polish transaldolase deficient patients. In: Morava, E, Baumgartner, M, Patterson, M, Rahman, S, Zschocke, J, Peters, V, editors. JIMD Reports. Berlin, Heidelberg: Springer Berlin Heidelberg; 2018, vol 42:79\u201387 https:\/\/doi.org\/10.1007\/8904_2017_83. [cited 2025 Jun 2] (JIMD Reports; vol. 42). Available from: https:\/\/link.springer.com\/10.1007\/8904_2017_83.","DOI":"10.1007\/8904_2017_83"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_012","doi-asserted-by":"crossref","unstructured":"Tylki-Szymanska, A, Wamelink, MMC, Stradomska, TJ, Salomons, GS, Taybert, J, D\u0105browska-Leonik, N, et al.. Clinical and molecular characteristics of two transaldolase-deficient patients. Eur J Pediatr 2014;173:1679\u201382. https:\/\/doi.org\/10.1007\/s00431-014-2261-2.","DOI":"10.1007\/s00431-014-2261-2"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_013","doi-asserted-by":"crossref","unstructured":"Lafc\u0131, NG, Colak, FK, Sahin, G, Sakar, M, \u00c7etinkaya, S, Savas-Erdeve, S. Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway. Hormones (Basel) 2021;20:581\u20135. https:\/\/doi.org\/10.1007\/s42000-020-00252-4.","DOI":"10.1007\/s42000-020-00252-4"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_015","doi-asserted-by":"crossref","unstructured":"Zangen, D, Florsheim, N, Lavi, E, Kerem, L, Renbaum, P, Cahan, R, et al.. PMON193 reactive oxygen species in the development of gonadal failure in late-onset transaldolase deficiency. J\u00a0Endocr Soc 2022;6:A621\u20132. https:\/\/doi.org\/10.1210\/jendso\/bvac150.1289.","DOI":"10.1210\/jendso\/bvac150.1289"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_016","doi-asserted-by":"crossref","unstructured":"Dirim, AB, Kalayci, T, Safak, S, Garayeva Guller, N, Oto, OA, Artan, AS, et al.. Late diagnosis of a rare multisystemic genetic disorder: transaldolase deficiency due to homozygous TALDO1 c. 345dupA variant. Nephrology 2024;29:55\u20136. https:\/\/doi.org\/10.1111\/nep.14243.","DOI":"10.1111\/nep.14243"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_017","doi-asserted-by":"crossref","unstructured":"Perl, A, Qian, Y, Chohan, KR, Shirley, CR, Amidon, W, Banerjee, S, et al.. Transaldolase is essential for maintenance of the mitochondrial transmembrane potential and fertility of spermatozoa. Proc Natl Acad Sci 2006;103:14813\u20138. https:\/\/doi.org\/10.1073\/pnas.0602678103.","DOI":"10.1073\/pnas.0602678103"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_018","doi-asserted-by":"crossref","unstructured":"Tucker, EJ, Grover, SR, Bachelot, A, Touraine, P, Sinclair, AH. Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum. Endocr Rev 2016;37:609\u201335. https:\/\/doi.org\/10.1210\/er.2016-1047.","DOI":"10.1210\/er.2016-1047"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_019","doi-asserted-by":"crossref","unstructured":"Rudnicka, E, Kruszewska, J, Klicka, K, Kowalczyk, J, Grymowicz, M, Sk\u00f3rska, J, et al.. Premature ovarian insufficiency\u00a0\u2013\u00a0aetiopathology, epidemiology, and diagnostic evaluation. Menopausal Rev 2018;17:105\u20138. https:\/\/doi.org\/10.5114\/pm.2018.78550.","DOI":"10.5114\/pm.2018.78550"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_020","doi-asserted-by":"crossref","unstructured":"Welt, CK. Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin Endocrinol 2008;68:499\u2013509. https:\/\/doi.org\/10.1111\/j.1365-2265.2007.03073.x.","DOI":"10.1111\/j.1365-2265.2007.03073.x"},{"key":"2026030907573156052_j_jpem-2025-0554_ref_021","doi-asserted-by":"crossref","unstructured":"Masunaga, Y, Mochizuki, M, Kadoya, M, Wada, Y, Okamoto, N, Fukami, M, et al.. Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation. Endocr J 2021;68:605\u201311. https:\/\/doi.org\/10.1507\/endocrj.ej20-0706.","DOI":"10.1507\/endocrj.EJ20-0706"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2025-0554\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2025-0554\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T07:57:41Z","timestamp":1773043061000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2025-0554\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,17]]},"references-count":20,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026,2,23]]},"published-print":{"date-parts":[[2026,3,26]]}},"alternative-id":["10.1515\/jpem-2025-0554"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2025-0554","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,17]]}}}