Neonatal hypercalcaemia associated with congenital adrenal hyperplasia

Abstract

Adrenal insufficiency is an important and potentially life-threatening condition, and it is also a rare cause of hypercalcaemia. We report a case of resistant hypercalcaemia (calcium [Ca] 13.8 mg/dL) in an 18-day-old male infant in which normalised serum Ca levels could not be achieved even after treatment with hyperhydration and furosemide. Long term lowering of serum Ca was only achieved after the diagnosis of congenital adrenal hyperplasia (CAH) was made and the initiation of hydrocortisone replacement therapy. Prior to presentation, the patient had only mild scrotal hyperpigmentation, and findings were otherwise unremarkable for CAH. Hypercalcaemia is a rare but well-recognised complication of CAH. The mechanism of this form of hypercalcaemia is unclear, because congenital adrenal insufficiency is a rare cause of hypercalcaemia and patients are treated as soon as the diagnosis is made. Neonatologists should consider CAH in the differential diagnosis of neonatal hypercalcaemia.

Keywords

• Hypercalcaemia,Congenital adrenal hyperplasia,Adrenal insufficiency hydrocortisone

References

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