Vitamin D supplementation in pregnancy: A word of caution. Familial hypercalcaemia due to disordered vitamin D metabolism
Bibliographic record
Abstract
Disorders of vitamin D metabolism have only recently become more widely recognized. In 2011, a series reported six children with familial idiopathic infantile hypercalcaemia, a condition in which patients develop hypercalcaemia following bolus vitamin D supplementation due to mutations in CYP24A1, formerly known as 24-hydroxylase. This is the chief enzyme in the catabolism of 1,25-dihydroxyvitamin D 3 (calcitriol) to inactive 1,24,25-(OH) 3 D 3 . Isolated cases of loss of function CYP24A1 mutations have been reported across a wide spectrum of ages, including three cases first identified during pregnancy in the context of vitamin D supplementation. We describe a family in which two siblings had hypercalcaemia due to a disorder of calcitriol catabolism as a result of compound heterozygous loss of function mutations of CYP24A1, including a novel mutation K351Nfs*21. The index case, who has kindly given written informed consent for this report, was a female in her mid-20s presenting with symptomatic hypercalcaemia precipitated by vitamin D supplementation in her first pregnancy. In a subsequent pregnancy, she remained normocalcaemic in the absence of supplementation. Her asymptomatic brother was identified through cascade screening. Upregulation of calcitriol production in pregnancy, particularly when combined with vitamin D supplementation, can unmask previously unidentified disorders of vitamin D metabolism. This report emphasizes the importance of screening of family members and the need for caution with vitamin D supplementation in pregnancy.
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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 | 0.002 | 0.008 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| 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".