PEDIATRICS Vol. 78 No. 2 August 1986, pp. 263-268
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Severe Primary Hyperparathyroidism in a Neonate With Two Hypercalcemic Parents: Management With Parathyroidectomy and Heterotopic Autotransplantation

Linda Cooper MD1, Joseph Wertheimer MD1, Raphael Levey MD1, Edward Brown MD1, Meryl Leboff MD1, Robert Wilkinson MD1, and Constantine S. Anast MD1

1 From the Children's Hospital, Brigham and Women's Hospital, and Harvard Medical School, Boston, and Marshall University School of Medicine, Huntington, West Virginia

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 parents were related and both had asymptomatic hypercalcemia with mean serum immunoreactive parathyroid hormone levels that were within the normal range. Similar to the 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.

Key Words: neonatal hyperparathyroidism • familial hypercalcemia • parathyroid autotransplantation

Submitted on August 12, 1985
Accepted on November 4, 1985


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