Genetic causes of hypocalcaemia can be overlooked in patients who present without apparent syndromic features. One relatively common but under-recognised genetic disorder is DiGeorge syndrome, which is often diagnosed in childhood but rarely in adulthood. Its enigmatic diagnosis can be attributed to its broad heterogeneous clinical presentation, such as the absence of cardiac abnormalities with only subtly abnormal facies. The presence of hypoparathyroidism-related hypocalcaemia may be the first early sign. We describe a young female adult with childhood-onset hypocalcaemia who was diagnosed with DiGeorge syndrome during her pregnancy when the fetus was found to have the same condition on antenatal screening and autopsy. This case reminds clinicians to consider the genetic causes of hypoparathyroidism-induced hypocalcaemia early on in childhood, while acknowledging the possibility of a late diagnosis in adulthood. We also highlight the risks of severe hypocalcaemia in pregnancy and outline a systematic approach to the evaluation of chronic hypocalcaemia.
- Calcium and bone
- Genetic screening / counselling
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Contributors The contributors of this work include ALL for medical care, writing the article and the submission process; PT for writing the article and advisory role, RR for advisory role, NM for medical care, supervision and advisory role as well as involvement in writing the article.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.