Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature review

ObjectiveTo report a rare case of concurrent Gitelman syndrome (GS) and Turner syndrome (TS) and explore their interplay in driving a complex clinical phenotype.DesignA single-case report with literature review.MethodsA 34-year-old woman was evaluated via clinical history, laboratory tests (electrolytes, glucose, thyroid function), and genetic analysis (karyotyping, SLC12A3 sequencing).ResultsThe patient presented with short stature, hypokalemia, and hyperglycemia. Genetic testing confirmed a 45, X/46, XX mosaic karyotype (TS) and compound heterozygous SLC12A3 mutations (GS). Associated conditions included diabetes mellitus, Hashimoto’s thyroiditis, and hyperlipidemia. Insulin and potassium supplementation achieved short-term stabilization.ConclusionThe 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.