{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T12:05:29Z","timestamp":1767873929349,"version":"3.49.0"},"reference-count":14,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T00:00:00Z","timestamp":1758758400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,23]]},"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n \n Congenital isolated adrenocorticotropic hormone deficiency (IAD) is a rare condition often caused by variants in the\n TBX19<\/jats:italic>\n gene, leading to significant adrenal insufficiency and metabolic disturbances in neonates. Early recognition and treatment are significant for improving outcomes. Although the c.856 C>T (p.Arg286Ter) variant in\n TBX19<\/jats:italic>\n has been identified as pathogenic, little is known about the genotype\u2013phenotype correlation due to the limited number of\u00a0cases.\n <\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n \n We present a male infant diagnosed with neonatal IAD, presenting with hypoglycemic seizures, hypokalemia, and cholestasis within the first 10\u202fh postnatally. There was notable facial dysmorphism, including long philtrum, depressed nasal root, epicanthus, prominent low ears, and mild hypertelorism. A homozygous c.856 C>T (p.Arg286Ter) variant in\n TBX19<\/jats:italic>\n was identified by genetic analysis. After receiving hydrocortisone treatment, the patient showed normal growth and neurodevelopment by the age of 3.2, free from hypoglycemia or recurrent seizures.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Variants in\n TBX19<\/jats:italic>\n , especially the c.856 C>T mutation, are a predominant cause of neonatal-onset adrenal insufficiency disorder (IAD). Prompt assessment of adrenal function in neonates presenting with hypoglycemia and cholestasis is essential for accurate diagnosis and timely initiation of hydrocortisone replacement therapy. Genetic assessment is essential for improving patient outcomes and advancing our comprehension of the relationship between genotype and phenotype.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2025-0381","type":"journal-article","created":{"date-parts":[[2025,9,24]],"date-time":"2025-09-24T02:57:33Z","timestamp":1758682653000},"page":"96-101","source":"Crossref","is-referenced-by-count":0,"title":["Clinical insights of the\n TBX19<\/i>\n C.856 C>T variant: a case report and literature review on neonatal isolated ACTH deficiency"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7397-3071","authenticated-orcid":false,"given":"Sirmen","family":"Kizilcan Cetin","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology, School of Medicine , 63990 Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0921-2694","authenticated-orcid":false,"given":"Zeynep","family":"Siklar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, School of Medicine , 63990 Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4584-2976","authenticated-orcid":false,"given":"Zehra","family":"Aycan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, School of Medicine , 63990 Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3459-5781","authenticated-orcid":false,"given":"Elif","family":"Ozsu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, School of Medicine , 63990 Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3869-1340","authenticated-orcid":false,"given":"Aysegul","family":"Ceran","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, School of Medicine , 63990 Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3102-0242","authenticated-orcid":false,"given":"Merih","family":"Berberoglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, School of Medicine , 63990 Ankara University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,9,25]]},"reference":[{"key":"2026010809595747032_j_jpem-2025-0381_ref_001","doi-asserted-by":"crossref","unstructured":"Charnay, T, Mougel, G, Amouroux, C, Gueorguieva, I, Joubert, F, Pertuit, M, et al.. A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin. Front Endocrinol 2023;13. https:\/\/doi.org\/10.3389\/fendo.2022.1080649.","DOI":"10.3389\/fendo.2022.1080649"},{"key":"2026010809595747032_j_jpem-2025-0381_ref_002","doi-asserted-by":"crossref","unstructured":"Stojilkovic, SS, Tabak, J, Bertram, R. Ion channels and signaling in the pituitary gland. Endocr Rev 2010;31:845\u2013915. https:\/\/doi.org\/10.1210\/er.2010-0005.","DOI":"10.1210\/er.2010-0005"},{"key":"2026010809595747032_j_jpem-2025-0381_ref_003","doi-asserted-by":"crossref","unstructured":"Dang, Y, Zhang, J, Wang, F. Congenital isolated adrenocorticotropic hormone deficiency in a newborn caused by TBX19 mutation: a case report and literature review. 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Horm Res Paediatr 2019;92:395\u2013403. https:\/\/doi.org\/10.1159\/000506740.","DOI":"10.1159\/000506740"},{"key":"2026010809595747032_j_jpem-2025-0381_ref_012","doi-asserted-by":"crossref","unstructured":"Vieira, I, Bala, NM, Ramos, F, Dinis, I, Cardoso, RM, Caetano, JS, et al.. A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period. Endocrinol Diabetes Metab Case Rep;2022:2022.","DOI":"10.1530\/EDM-22-0277"},{"key":"2026010809595747032_j_jpem-2025-0381_ref_013","doi-asserted-by":"crossref","unstructured":"\u00dcnal, E, Y\u0131ld\u0131r\u0131m, R, Ta\u015f, FF, Tekin, S, \u015een, A, Haspolat, YK. A rare cause of neonatal hypoglycemia in two siblings: TBX19 gene mutation. 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