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Severe primary hyperparathyroidism in a neonate with two hypercalcemic parents: management with parathyroidectomy and heterotopic autotransplantation



Severe primary hyperparathyroidism in a neonate with two hypercalcemic parents: management with parathyroidectomy and heterotopic autotransplantation



Pediatrics 78(2): 263-268



A neonate with severe primary hyperparthyroidism was successfully managed by parathyroidectomy and heterotopic autotransplantation (one third of one gland of the infant was implanted in the forearm). In vitro studies of parathyroid tissue from the infant revealed a severe defect in parathyroid suppressibility. Postoperatively, the infant had modest hypercalcemia, normal serum immunoreactive parathyroid hormone levels, hypermagnesemia, and relative hypocalciuria. The patients were related and both had asymptomatic hypercalcemia with mean serum immunoreactive parathyroid hormone levels that were within the normal range. Similar to these findings in the infant postoperatively, relative hypocalciuria in the presence of hypercalcemia was found in the mother; in contrast, the father had hypercalciuria. The presumed dominantly transmitted hypercalcemia in this kindred is consistent with familial hypocalciuric hypercalcemia with a confounding factor of ethanol possibly accounting for the hypercalciuria in the father.

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Accession: 006405390

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PMID: 3737302


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