Hypercalcemia in pregnancy secondary to pathogenic variants in <i>CYP24A1</i>
Bibliographic record
Abstract
Hypercalcemia is rare in pregnancy and carries a significant risk for both mother and fetus. A rare cause of hypercalcemia is loss-of-function mutations in CYP24A1 , which encodes 24-hydroxylase, responsible for the inactivation of active vitamin D metabolites. Pregnancy-associated upregulation of 1α-hydroxylase, increased parathyroid hormone (PTH)-related peptide, and supplementation with vitamin D can unmask CYP24A1 deficiency. This condition should be suspected in women presenting with unexplained hypercalcemia, suppressed PTH, and a negative secondary workup for malignancy, granulomatous disease, and contributory medications. Management includes intravenous fluids, calcitonin, and avoidance of vitamin D and calcium supplements. Here, we report a case of persistent hypercalcemia despite aggressive hydration and calcitonin therapy. Postpartum genetic testing confirmed a homozygous CYP24A1 mutation, with markedly elevated 1,25(OH) 2 D levels. CYP24A1 mutations are a rare but important cause of gestational hypercalcemia. Early recognition and multidisciplinary management can improve maternal and neonatal outcomes.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.007 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.005 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".