CASE REPORT article
Front. Endocrinol.
Sec. Bone Research
Volume 16 - 2025 | doi: 10.3389/fendo.2025.1634377
A case report of X-linked hypophosphatemia combined with primary hyperparathyroidism
Provisionally accepted
- Department of Endocrinology, West China Hospital of Sichuan University, Chengdu, China
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Abstract：Both hypophosphatemic osteomalacia and primary hyperparathyroidism (PHPT) can lead to hypophosphatemia, but their simultaneous occurrence in the same patient is exceedingly rare. This article reports a case of a 43-year-old female patient whose primary clinical manifestations included pain in the lumbosacral and scapular regions, restricted mobility, and biochemical findings of decreased serum phosphate levels with normal parathyroid hormone (PTH) levels. The patient's symptoms improved after treatment with active vitamin D supplementation, although neutral phosphate supplements were not administered. Eight years later, the patient's symptoms progressively worsened. Further investigations revealed elevated PTH levels and worsening hypophosphatemia. Neck contrast-enhanced ultrasonography and parathyroid radionuclide imaging both indicated nodules in the right parathyroid gland.Postoperative pathological examination confirmed the diagnosis of parathyroid adenoma. Whole-exome sequencing identified a heterozygous deletion in exon 11 of the PHEX gene, consistent with a diagnosis of X-linked hypophosphatemia (XLH).
Keywords: Hypophosphatemic osteomalacia, X-linked hypophosphatemia, primary hyperparathyroidism, Parathyroidectomy, Bone pain
Received: 24 May 2025; Accepted: 08 Jul 2025.
Copyright: © 2025 Wu, Wang, Yang and Zhang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Qin Wang, Department of Endocrinology, West China Hospital of Sichuan University, Chengdu, China
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