{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T05:00:36Z","timestamp":1781067636431,"version":"3.54.1"},"reference-count":16,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T00:00:00Z","timestamp":1781049600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>21-hydroxylase deficiency is an autosomal recessive genetic disease caused by congenital deficiency of 21-hydroxylase. Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disease. The coexistence of these two diseases in the same patient is rare in clinical practice.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We report the case of a newborn with concurrent 21-hydroxylase deficiency and GS who presented with severe hyponatremic seizures. We describe the clinical manifestations, physical examination findings, laboratory results, treatment, and follow-up.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A male newborn was admitted to the neonatal intensive care unit at Tianjin Children\u2019s Hospital for intermittent convulsions for 10 days. Laboratory tests showed severe hyponatremia, with a serum sodium of 88 mmol\/L, which was considered the cause of the convulsions. Further testing showed markedly elevated 17-hydroxyprogesterone (17-OHP) and adrenocorticotrophic hormone (ACTH) levels (17-OHP, 740.2 ng\/mL; reference range, &amp;lt;3 ng\/mL; ACTH, 488.4 pg\/mL; reference range, 7.2\u201363.3 pg\/mL). Therefore, 21-hydroxylase deficiency was clinically diagnosed. Serum potassium was mostly within the normal range, but hypomagnesemia was recorded. Whole-exome sequencing and multiplex ligation-dependent probe amplification combined with long-range PCR were performed. There were two pathogenic variants identified, a homozygous variant of 293-13C&amp;gt;G (p.)? in intron 2 in the\n                      <jats:italic>CYP21A2<\/jats:italic>\n                      gene and a compound heterozygous variant of c.473G&amp;gt;A (p.Arg158Gln) and c.2720\u00a0+\u00a03A&amp;gt;T (p.)? in the\n                      <jats:italic>SLC12A3<\/jats:italic>\n                      gene. Genetic testing confirmed two rare diseases in this infant: 21-hydroxylase deficiency and Gitelman syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The coexistence of 21-hydroxylase deficiency and GS in a neonate has rarely been reported. These two pathologies determine the opposite values of potassium (hyperkalemia in 21-hydroxylase deficiency and hypokalemia in GS). This case report provides diagnostic and treatment insights for clinicians and highlights the value of genetic testing when the diagnosis is uncertain.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fendo.2026.1841630","type":"journal-article","created":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T04:29:27Z","timestamp":1781065767000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Coexistence of 21-hydroxylase deficiency and Gitelman syndrome in a neonate presenting with severe hyponatremic seizures: a case report"],"prefix":"10.3389","volume":"17","author":[{"given":"Ruiping","family":"Zhang","sequence":"first","affiliation":[{"name":"Neonatal Department of Longyan Division, Tianjin University Children\u2019s Hospital\/Tianjin Children\u2019s Hospital","place":["Tianjin, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Zhang","sequence":"additional","affiliation":[{"name":"Neonatal Department of Longyan Division, Tianjin University Children\u2019s Hospital\/Tianjin Children\u2019s Hospital","place":["Tianjin, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanyan","family":"Nie","sequence":"additional","affiliation":[{"name":"Neonatal Department of Longyan Division, Tianjin University Children\u2019s Hospital\/Tianjin Children\u2019s Hospital","place":["Tianjin, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanling","family":"Bai","sequence":"additional","affiliation":[{"name":"Neonatal Department of Longyan Division, Tianjin University Children\u2019s Hospital\/Tianjin Children\u2019s Hospital","place":["Tianjin, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianbo","family":"Shu","sequence":"additional","affiliation":[{"name":"Tianjin Pediatric Research Institute, Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin University Children\u2019s Hospital\/Tianjin Children\u2019s Hospital","place":["Tianjin, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Liu","sequence":"additional","affiliation":[{"name":"Neonatal Department of Longyan Division, Tianjin University Children\u2019s Hospital\/Tianjin Children\u2019s Hospital","place":["Tianjin, China"]},{"name":"The Pediatric Clinical College of Tianjin Medical University","place":["Tianjin, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,6,10]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2018.02.002","article-title":"Acute symptomatic seizures in term neonates: etiologies and treatments","volume":"23","author":"Soul","year":"2018","journal-title":"Semin Fetal Neonatal 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