Transient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous TRPV6 Deletion

Key Points

• This research aims to explore the effects of a TRPV6 gene mutation on calcium transport between mother and fetus.
• Investigation of a novel homozygous TRPV6 deletion
• Analysis of maternal-fetal calcium transport mechanisms
• Assessment of osteopenia characteristics in affected fetus
• Identified a significant impact on maternal-fetal calcium transport due to the TRPV6 mutation
• Observed severe intrauterine osteopenia in the fetus
• Confirmed a link between TRPV6 deletion and transient hyperparathyroidism