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.
Sato et al. (Wed,) studied this question.