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Primary hyperparathyroidism in infancy
Insights
Primary hyperparathyroidism in newborns is rare and life-threatening. Total parathyroidectomy with autotransplantation offers a promising surgical solution, avoiding lifelong complications and improving outcomes.
Area of Science:
- Endocrinology
- Pediatric Surgery
- Genetics
Background:
- Primary hyperparathyroidism in neonates is a rare, severe condition.
- Infants present with hypercalcemia, respiratory distress, hypotonia, and skeletal demineralization.
- High mortality rates are associated with medical management (87.5%) and surgery (24%).
Observation:
- A term newborn female diagnosed with primary hyperparathyroidism on day 2 of life.
- Underwent total parathyroidectomy and parathyroid autotransplantation on day 11.
- Experienced recurrent hypercalcemia requiring autograft removal, now over 2 years post-surgery and thriving.
Findings:
- Traditional surgical approaches like subtotal parathyroidectomy lead to recurrent hypercalcemia.
- Total parathyroidectomy necessitates lifelong calcium and vitamin D supplementation.
- Parathyroid autotransplantation in this neonate successfully managed hypercalcemia and avoided permanent hypoparathyroidism.
Implications:
- Parathyroid autotransplantation is a viable surgical option for neonatal primary hyperparathyroidism.
- This approach mitigates risks of repeated surgery or permanent endocrine deficiency.
- Successful long-term outcomes support recommending this technique for affected neonates.
Abstract:
Primary hyperparathyroidism in the neonate is a rare and often fatal disorder. These infants typically display severe hypercalcemia, respiratory distress, muscular hypotonia, and skeletal demineralization. They are usually diagnosed within the first three months of life and have hyperplasia of the four parathyroid glands. Twenty-nine infants with primary hyperparathyroidism are reported in the literature. Mortality is 87.5% in medically managed patients and 24% in surgically managed patients. Surgical management has not been satisfactory, in that recurrent hypercalcemia has been encountered in most patients undergoing subtotal parathyroidectomy, and total parathyroidectomy has resulted in the need for lifelong calcium and vitamin D supplementation. We have recently cared for a term newborn female in whom the diagnosis of primary hyperparathyroidism was made clinically on the second day of life, and later was confirmed biochemically. The baby underwent neck exploration on the 11th day of life and was successfully treated with total parathyroidectomy and parathyroid autotransplantation. Although initially rendered eucalcemic, the infant subsequently developed recurrent hypercalcemia requiring the removal of some of the autograft. Currently, the child is more than 2 years following surgery, growing well, and off all medication. The world literature is reviewed in this report of one of the first and the youngest infants, to our knowledge, to undergo parathyroid autotransplantation. In view of its success in avoiding the complication of repeated neck exploration for recurrent hyperparathyroidism or the creation of permanent hypoparathyroidism, we recommend this surgical approach for the rare neonate with primary hyperparathyroidism.