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March 26, 2026Clinical EndocrinologyOpen Access

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

Teodora Grigore Quinty Leusink Femke Latta B. C. J. Van der Eerden Paul de Laat Danielle van der Kaay Joost Hoenderop

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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

Implication

Findings demonstrate the impact of TRPV6 mutation on calcium transport in the fetus, suggesting a link to skeletal health.

Abstract

These findings indicate that the TRPV6-p.Arg492* mutation affects maternal-foetal Ca²⁺ transport and explains the observed phenotype.

Discussion

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Cite This Study

Grigore et al. (2026) studied this question.

synapsesocial.com/papers/69c772058bbfbc51511e2373 https://doi.org/10.1111/cen.70134

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Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Novel TRPV6 variant linked with transient neonatal hyperparathyroidism2024
2TRPV6-related intrauterine calciopenic rickets: a case report and literature reviewCase Report · 2026
3Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria2024 · 6 citations
4Familial Nephrocalcinosis Associated With Heterozygous SLC34A1 and TRPV5 Variants Presenting With Elevated 1,25-Dihydroxyvitamin DOriginal Research · 2026
5The intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type IIOriginal Research · 2025 · 1 citations

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A novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report2026

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