Long-term and pregnancy outcomes are reported in three sisters with hypomagnesemia due to a novel TRPM6 mutation, suggesting new insights into management.
Hypomagnesemia with Secondary Hypocalcemia (HSH) is a rare autosomal-recessive disorder due to TRPM6 dysfunction, causing impaired intestinal magnesium (Mg) absorption and distal tubular reabsorption. Few reports describe the long-term course or pregnancy management of HSH. We report three sisters with lifelong hypomagnesemia/hypocalcemia carrying a novel homozygous TRPM6 insertion and provide integrated biochemical, functional, and genetic characterization.
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Sato et al. (2026) studied this question.
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