Neonatal primary hyperparathyroidism masked by vitamin D deficiency

K. Meeran, M. Husain, M. Puccini, H. Scott, C. Dionisi-Vici, D. R. Harvey, J. Lynn, R. V. Thakker

Research output: Contribution to journalArticlepeer-review

Abstract

Neonatal primary hyperparathyroidism is a life threatening disorder that is associated with severe hypercalcaemia, hypotonia, bone demineralization, fractures and respiratory distress. Treatment consists of total para thyroidectomy and without this affected infants will usually die by the age of three months. We report a patient with neonatal primary hyperparathyroidism who survived without fractures or parathyroidectomy to an age of nine months, and In whom the hypercalcaemia became masked by vitamin D deficiency. At surgery, four-gland hyperplasia was demonstrated and total parathyroidectomy followed by oral calcitriol treatment has restored well-being and normocalcaemia. An absence of skeletal complications, a survival beyond three months of age without parathyroidectomy and the masking of the hypercalcaemia by vitamin D deficiency represents a unique combination of metabolic abnormalities in a patient with neonatal primary hyperparathyroidism.

Original languageEnglish
Pages (from-to)531-534
Number of pages4
JournalClinical Endocrinology
Volume41
Issue number4
Publication statusPublished - 1994

ASJC Scopus subject areas

  • Endocrinology

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