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 machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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 source (direct Gemma or distilled Codex), 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".