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Challenges and pitfalls in diagnosing and managing severe gestational hypercalcemia
Charlotte Dewdney1, Stephanie Penswick1, Carolyn Chiswick2
1Centre for Endocrinology and Diabetes, Royal Infirmary of Edinburgh, Edinburgh EH16 4SA, United Kingdom.
Summary
This case highlights gestational hypercalcaemia caused by CYP24A1 deficiency, a rare genetic disorder affecting vitamin D metabolism during pregnancy. Diagnosis can be challenging due to overlapping symptoms with normal pregnancy.
Area of Science:
- Endocrinology
- Genetics
- Obstetrics
Background:
- Pregnancy-induced hypertension and severe hypercalcaemia presented a diagnostic challenge.
- Elevated vitamin D metabolites (25(OH)D₃ and 1,25(OH)₂D₃) and suppressed parathyroid hormone (PTH) were noted.
- Malignancy and granulomatous disease were excluded as causes.
Purpose of the Study:
- To investigate the cause of persistent severe hypercalcaemia in a pregnant patient.
- To identify the underlying genetic basis of the disorder.
- To describe the diagnostic challenges of recognizing specific genetic conditions during pregnancy.
Main Methods:
- Clinical case presentation and management.
- Biochemical analysis of calcium, PTH, and vitamin D metabolites.
- Genetic analysis for pathogenic variants in CYP24A1.
- Renal imaging for nephrolithiasis and nephrocalcinosis.
Main Results:
- The patient exhibited severe hypercalcaemia, elevated calcitriol, and suppressed PTH.
- Genetic testing revealed compound heterozygous pathogenic variants in CYP24A1.
- The mother's hypercalcaemia persisted postpartum and normalized after weaning.
- The neonate experienced transient hypocalcaemia.
Conclusions:
- Gestational hypercalcaemia was diagnosed due to CYP24A1 deficiency.
- CYP24A1 deficiency impairs calcitriol degradation, leading to hypercalcaemia.
- Diagnostic challenges arise from physiological pregnancy-related changes that can mask or mimic this condition.
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