22q11.2 deletion syndrome
ICD-10 D82.1 · ICD-11 LD44.N0

Treatment of 22q11.2 Deletion Syndrome in Hypocalcemia with Hypoparathyroidism

Clinical scenario

This protocol covers patients with 22q11.2 deletion syndrome who present with hypocalcemia in the context of relative or absolute hypoparathyroidism. This complication can arise or recur at any stage of life, even after it appeared to resolve in childhood.

Key comorbidity

Hypocalcemia associated with relative or absolute hypoparathyroidism is recognised as an issue for most patients with 22q11.2 deletion syndrome. Its unpredictable recurrence across the lifespan underscores the need for a structured, evidence-based management approach.

Management approach
Management centres on the use of hormonally active vitamin D metabolites, alongside endocrinologist consultation. The full regimen — including specific agents, patient selection criteria, and monitoring guidance — is available in the complete structured protocol.
Instant Access to Structured Evidence-Based Regimens

References

  1. Hypocalcemia associated with relative or absolute hypoparathyroidism is an issue for most patients and may arise or recur at any age and despite apparent resolution in childhood.
  2. Management using hormonally active vitamin D metabolites, eg, calcitriol, is reserved for more severe/refractory cases usually with endocrinologist consultation.

DOI: 10.1016/j.gim.2022.11.012

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