The High Bone Density Paradox: Primary Hyperparathyroidism in the Setting of Osteopetrosis
https://doi.org/10.15605/jafes.041.S1
- Author:
Marisa Masera Marzukie
1
;
Shireene Ratna Vethakkan
1
;
Jeyakantha Ratnasingam
1
Author Information
1. Universiti Malaya Medical Centre
- Publication Type:Journal Article
- MeSH:
Bone Density' Hyperparathyroidism;
Primary Osteopetrosis
- From:
Journal of the ASEAN Federation of Endocrine Societies
2026;41(S1):71-72
- CountryPhilippines
- Language:English
-
Abstract:
Introduction:Primary hyperparathyroidism (PHPT) is a common disorder
that typically leads to increased bone turnover and reduced
bone mineral density (BMD). Osteopetrosis, in contrast, is
a rare, inherited disorder of defective osteoclast function,
resulting in diffusely sclerotic but structurally fragile bones.
The coexistence of both conditions is rare and can significantly alter the expected skeletal phenotype of PHPT.
Case:We report a 77-year-old female with a previous history
of resected ovarian carcinoma in remission, chronic iron
deficiency anemia, and hypothyroidism. During a hospital
admission for a lacunar infarct, an incidental finding of
sclerotic skull lesions on computed tomography (CT)
brain prompted further investigation. She had no history
of fractures, hearing impairment, or family history of
parathyroid or bone disorders. Biochemistry revealed
parathyroid-dependent hypercalcemia with normal
renal function. Bone turnover markers showed a normal
resorption marker (BCTx) but an elevated formation marker
(P1NP), with a mildly raised alkaline phosphatase. A
sestamibi scan localized a probable left upper parathyroid
adenoma, despite a negative neck ultrasound. Skeletal
survey unexpectedly revealed widespread osteosclerosis
of the skull, spine, and long bones, with a markedly
elevated BMD on densitometry. Review of prior imaging
confirmed that these sclerotic changes predated her
current presentation, having been present on CTs from
over a decade ago. Recurrent malignancy was excluded
with repeat imaging and tumor markers. A diagnosis
of PHPT secondary to parathyroid adenoma, coexisting
with underlying, previously unrecognized osteopetrosis,
was made. The patient declined both recommended
parathyroidectomy and genetic studies.
Conclusion:This case demonstrates a rare coexistence of two pathologies
with opposing effects on bone metabolism. The underlying
osteopetrosis, characterized by defective osteoclasts, likely
rendered the patient’s osteoclasts resistant to the catabolic
effects of elevated PTH. This resulted in an atypically
normal bone resorption marker and an unexpectedly high
BMD, despite the diagnosis of PHPT.
- Full text:2026080410301062157EP_A095.pdf
