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

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, SLC12A3 sequencing).

RESULTS

The 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.

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.