{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T04:16:14Z","timestamp":1783656974459,"version":"3.55.0"},"reference-count":44,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T00:00:00Z","timestamp":1783641600000},"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. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To report a rare case of concurrent Gitelman syndrome (GS) and Turner syndrome (TS) and explore their interplay in driving a complex clinical phenotype.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>A single-case report with literature review.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      A 34-year-old woman was evaluated via clinical history, laboratory tests (electrolytes, glucose, thyroid function), and genetic analysis (karyotyping,\n                      <jats:italic>SLC12A3<\/jats:italic>\n                      sequencing).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The patient presented with short stature, hypokalemia, and hyperglycemia. Genetic testing confirmed a 45, X\/46, XX mosaic karyotype (TS) and compound heterozygous\n                      <jats:italic>SLC12A3<\/jats:italic>\n                      mutations (GS). Associated conditions included diabetes mellitus, Hashimoto\u2019s thyroiditis, and hyperlipidemia. Insulin and potassium supplementation achieved short-term stabilization.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The coexistence of GS and TS likely synergistically exacerbated metabolic and electrolyte derangements. This highlights the need for multidisciplinary, personalized long-term management in such overlapping genetic disorders.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2026.1808148","type":"journal-article","created":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T03:36:51Z","timestamp":1783654611000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature review"],"prefix":"10.3389","volume":"17","author":[{"given":"Youhong","family":"Luo","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism, The Affiliated Hospital of Southwest Medical University","place":["Luzhou, Sichuan, China"]},{"name":"Department of Endocrinology and Metabolism, The People\u2019s Hospital of Leshan","place":["Leshan, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingrui","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, The Affiliated Hospital of Southwest Medical University","place":["Luzhou, Sichuan, China"]},{"name":"Department of Endocrinology and Metabolism, The People\u2019s Hospital of Leshan","place":["Leshan, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weili","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, The People\u2019s Hospital of Leshan","place":["Leshan, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maoting","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, The People\u2019s Hospital of Leshan","place":["Leshan, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaohua","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, The People\u2019s Hospital of Leshan","place":["Leshan, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yao","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, The People\u2019s Hospital of Leshan","place":["Leshan, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dandan","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, The People\u2019s Hospital of Leshan","place":["Leshan, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, The People\u2019s Hospital of Leshan","place":["Leshan, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, The Affiliated Hospital of Southwest Medical University","place":["Luzhou, Sichuan, China"]},{"name":"Department of Endocrinology and Metabolism, The People\u2019s Hospital of Leshan","place":["Leshan, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,7,10]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.kint.2016.09.046","article-title":"Gitelman syndrome: consensus and guidance from a kidney disease: improving global outcomes (KDIGO) controversies conference","volume":"91","author":"Anne","year":"2017","journal-title":"Kidney Int."},{"key":"B2","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1007\/s12020-007-0024-9","article-title":"Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome","volume":"31","author":"Aoi","year":"2007","journal-title":"Endocrine"},{"key":"B3","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1016\/j.jaut.2012.01.015","article-title":"Autoimmune disorders in women with Turner syndrome and women with karyotypically normal primary ovarian insufficiency","volume":"38","author":"Bakalov","year":"2012","journal-title":"J. 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