ArticleFrontiers in genetics2026
Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature review.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: To report a rare case of concurrent Gitelman syndrome (GS) and Turner syndrome (TS) and explore their interplay in driving a complex clinical phenotype. Design: A single-case report with literature review. Methods: A 34-year-old woman was evaluated via clinical history, laboratory tests (electrolytes, glucose, thyroid function), and genetic analysis (karyotyping, Results: The patient presented with short stature, hypokalemia, and hyperglycemia. Genetic testing confirmed a 45, X/46, XX mosaic karyotype (TS) and compound heterozygous Conclusion: 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.
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