ReviewNutrients2022
Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature.
Review in Nutrients, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Vitamin D as a cellular endocrine system: Tissue-specific microcircuits, immune reprogramming, and metabolic resistance.iScience · 2026Review
- Gestational hypercalcemia: a narrative review of literature.Frontiers in medicine · 2026Review
- CYP24A1 Deficiency Presenting With Hypercalcemia and Hypervitaminosis D in Pregnancy: A Case Report.Cureus · 2026Article
- Current Controversies on Adequate Circulating Vitamin D Levels in CKD.International journal of molecular sciences · 2025Review
- Hypercalcemia in pregnancy secondary to pathogenic variants inObstetric medicine · 2025Article
- Does everyone need to take vitamin D? High prevalence of CYP24A1 deficiency in the Russian population.Problemy endokrinologii · 2025Article
- An Uncommon Case of Lactational Hypercalcemia With Diagnostic and Therapeutic Challenges.Cureus · 2025Article
- Pharmacovigilance analysis of metabolic and nutritional adverse reactions associated with entecavir and tenofovir using the FDA adverse event reporting system database.International journal of clinical pharmacy · 2025Article
- Hypercalcemia due toJBMR plus · 2025Article
- Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.Journal of personalized medicine · 2025Review
- Targeting Calcitriol Metabolism in Acute Vitamin D Toxicity-A Comprehensive Review and Clinical Insight.International journal of molecular sciences · 2024Review
- Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant ofChildren (Basel, Switzerland) · 2023Article
- A Pregnant Woman With Hypercalcemia-Induced Acute Pancreatitis.Kidney international reports · 2023Article
- Severe Hypercalcemia Due to Primary Hyperparathyroidism and Heterozygous Pathogenic Variant of CYP24A1.JCEM case reports · 2023Article
- Article
- Approach to the Patient: Management of Parathyroid Diseases Across Pregnancy.The Journal of clinical endocrinology and metabolism · 2023Article
- Nongenomic Activities of Vitamin D.Nutrients · 2022Review
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pathogenic mutations of CYP24A1 lead to an impaired catabolism of vitamin D metabolites and should be considered in the differential diagnosis of hypercalcemia with low parathyroid hormone concentrations. Diagnosis is based on a reduced 24,25-dihydroxyvitamin D to 25-hydroxyvitamin D ratio and confirmed by genetic analyses. Pregnancy is associated with an upregulation of the active vitamin D hormone calcitriol and may thus particularly trigger hypercalcemia in affected patients. We present a case report and a narrative review of pregnant women with CYP24A1 mutations (13 women with 29 pregnancies) outlining the laboratory and clinical characteristics during pregnancy and postpartum and the applied treatment approaches. In general, pregnancy triggered hypercalcemia in the affected women and obstetric complications were frequently reported. Conclusions on drugs to treat hypercalcemia during pregnancy are extremely limited and do not show clear evidence of efficacy. Strictly avoiding vitamin D supplementation seems to be effective in preventing or reducing the degree of hypercalcemia. Our case of a 24-year-old woman who presented with hypercalcemia in the 24th gestational week delivered a healthy baby and hypercalcemia resolved while breastfeeding. Pathogenic mutations of CYP24A1 mutations are rare but should be considered in the context of vitamin D supplementation during pregnancy.
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Registered trials
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