Parathyroidectomy for tertiary hyperparathyroidism associated with X-linked dominant hypophosphatemic rickets

Arch Surg. 2004 Feb;139(2):218-22. doi: 10.1001/archsurg.139.2.218.


Background: X-linked dominant hypophosphatemic rickets (XLHR) is a hereditary metabolic bone syndrome that is only beginning to be understood and is rarely associated with progression to irreversible tertiary hyperparathyroidism. We report our surgical experience with 6 patients with XLHR who underwent parathyroidectomy for associated autonomous parathyroid hyperfunction.

Hypothesis: Parathyroidectomy can successfully treat tertiary hyperparathyroidism in the setting of XLHR, although an understanding of expected operative findings and postoperative complications is essential.

Design: The study group comprised 6 patients with XLHR identified from our endocrine surgery database. Presentation, surgical procedure, parathyroid pathologic findings, and subsequent outcome are outlined.

Results: There were 4 women and 2 men. All were exposed to long-term vitamin D and phosphate supplementation therapy. All had persistently elevated preoperative levels of parathyroid hormone and serum calcium. The patients were treated as follows: 3 had total parathyroidectomy, 2 had 3 parathyroid glands identified and resected, and 1 had 2 abnormal parathyroid glands resected with 2 normal-appearing parathyroid glands left in situ. One patient subsequently required completion parathyroidectomy for recurrent disease. Pathologic examination results revealed hyperplasia of all resected parathyroid glands in 4 of 6 patients. One patient had a single adenoma with 3-gland hyperplasia, and 1 patient had a double adenoma. The principal complication of this procedure was profound symptomatic hypocalcemia requiring intravenous calcium infusion. Hungry bone syndrome was also observed in most subjects. Long-term, all patients achieved normocalcemia.

Conclusion: Tertiary hyperparathyroidism is a rare but recognized complication of XLHR. Parathyroidectomy effectively treats this complication caused by autonomous parathyroid hyperfunction, but profound postoperative hypocalcemia necessitates careful management.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Female
  • Humans
  • Hyperparathyroidism, Secondary / diagnosis
  • Hyperparathyroidism, Secondary / etiology*
  • Hyperparathyroidism, Secondary / surgery*
  • Hypophosphatemia, Familial / complications*
  • Hypophosphatemia, Familial / diagnosis
  • Male
  • Middle Aged
  • Parathyroidectomy / methods*
  • Postoperative Care
  • Prognosis
  • Retrospective Studies
  • Risk Assessment
  • Sampling Studies
  • Severity of Illness Index
  • Treatment Outcome