# Case Report: Developmental-like skeletal deformities and transient osteosclerosis as rare presentations of primary hyperparathyroidism

**Authors:** Peijun Deng, Qin Wang, Miaoxian Huang, Haiying Wu, Jianwen Huang, Jie Li, Xiaosheng Gao, Mi Zhou, Yunfa Yang, Junbo Liang

PMC · DOI: 10.3389/fendo.2026.1672914 · Frontiers in Endocrinology · 2026-02-13

## TL;DR

A 14-year-old Tibetan girl with skeletal deformities was found to have primary hyperparathyroidism, showing rare symptoms and a novel postoperative bone response.

## Contribution

Describes a novel transient osteosclerosis following parathyroidectomy in a pediatric PHPT case.

## Key findings

- PHPT can present as developmental-like skeletal deformities in adolescents.
- Transient osteosclerosis emerged post-surgery and resolved with calcium and vitamin D management.
- Staged osteotomies with meticulous care enabled successful deformity correction.

## Abstract

Skeletal disorders in primary hyperparathyroidism (PHPT) classically manifest with osteoporosis or brown tumors. While skeletal deformities are documented in resource-limited areas, coxa vara combined with genu valgum remains unreported.

A 14-year-old Tibetan female from rural China presented with progressive bilateral coxa vara (left: 102.45°, right: 109.10°) and genu valgus (left: 24.20°, right: 18.80°). Staged osteotomies for lower limb deformities were planned. After the stage 1 osteotomy, severe hypercalcemia (peak: 3.79 mmol/L; reference: 2.11–2.52 mmol/L) and elevated PTH (995 pg/mL; reference: 15–65 pg/mL) emerged, leading to Single-photon emission computed tomography (SPECT) confirmed diagnosis of a left inferior parathyroid adenoma. Following the multidisciplinary team (MDT) recommendation, parathyroidectomy (PTX) achieved a biochemical cure, though postoperative hypocalcemia (nadir: 1.62 mmol/L; reference: 2.11–2.52 mmol/L) required aggressive calcium and calcitriol supplementation. After metabolic stabilization, the stage 2 osteotomy was performed. Notably, multifocal osteosclerotic regions around the knees emerged during the X-ray follow-up, resolving within 1 year with rigorous perioperative calcium and vitamin D management. One-year follow-up confirmed complete bony union, functional recovery, and deformity correction.

This case highlights two key points: first, PHPT can masquerade as developmental skeletal deformity in adolescents, mandating a high index of suspicion and biochemical screening. Second, we describe a novel, self-resolving phenomenon of transient postoperative osteosclerosis, likely representing a reparative bone response following biochemical cure. Successful orthopedic correction before full metabolic normalization underscores the feasibility of staged management with meticulous perioperative care. These observations expand the phenotypic spectrum of pediatric PHPT.

## Linked entities

- **Chemicals:** calcium (PubChem CID 5460341), calcitriol (PubChem CID 5280453)
- **Diseases:** primary hyperparathyroidism (MONDO:0010837), osteoporosis (MONDO:0005298), hypercalcemia (MONDO:0001566), hypocalcemia (MONDO:0018543), coxa vara (MONDO:0007391), osteosclerosis (MONDO:0002933)
- **Species:** Homo sapiens (taxon 9606)

## Full-text entities

- **Genes:** BGLAP (bone gamma-carboxyglutamate protein) [NCBI Gene 632] {aka BGP, OC, OCN}, CDC73 (cell division cycle 73) [NCBI Gene 79577] {aka C1orf28, FIHP, HPTJT, HRPT1, HRPT2, HYX}, ALB (albumin) [NCBI Gene 213] {aka FDAHT, HSA, PRO0883, PRO0903, PRO1341}, PTH (parathyroid hormone) [NCBI Gene 5741] {aka FIH1, PTH1}, GATA3 (GATA binding protein 3) [NCBI Gene 2625] {aka HDR, HDRS}
- **Diseases:** hypercalciuria (MESH:D053565), Developmental skeletal deformity (MESH:D009140), PTH resistance (MESH:D018382), renal disease (MESH:D007674), inferior parathyroid adenoma (MESH:D010282), limb deformities (MESH:D017880), hyperplasia (MESH:D006965), nutritional rickets (MESH:D012279), genu valgus (MESH:D060906), nodular hyperplasia (MESH:D020518), MEN1 (MESH:D018761), vitamin D-deficient rickets (MESH:D063730), MEN syndromes (MESH:D018813), hypocalcemia (MESH:D006996), coxa vara (MESH:D060905), basal ganglia calcification (MESH:C535607), hypophosphatemia (MESH:D017674), infections (MESH:D007239), defective bone mineralization (MESH:D012080), endocrine disorder (MESH:D004700), hypercalcemia (MESH:D006934), joint pain (MESH:D018771), osteolysis (MESH:D010014), bone disease (MESH:D001847), genu valgum/varum (MESH:D056305), ossification (MESH:C562735), osteoporosis (MESH:D010024), metabolic bone disease (MESH:D001851), abnormal gait (MESH:D020233), sclerosis (MESH:D012598), adenoma (MESH:D000236), vitamin D deficiency (MESH:D014808), PHPT (MESH:D049950), neurological deficits (MESH:D009461), genetic (MESH:D030342), osteosclerotic lesions (MESH:C535282), ambulatory (MESH:D051346), (spinal/pelvic) sclerosis (MESH:D005621), trauma (MESH:D014947), pseudohypoparathyroidism (MESH:D011547), Inflammatory (MESH:D007249), nephrolithiasis (MESH:D053040), fractures (MESH:D050723), osteosclerosis (MESH:D010026), hereditary syndromes (MESH:D009386), benign parathyroid lesions (MESH:D010279), familial hyperparathyroidism (MESH:D006961), Hypomagnesemia (OMIM:613882), PD (MESH:D010300), lower limb deformities (MESH:D038061), tumors of the pancreas and pituitary gland (MESH:D010911), Skeletal disorders (MESH:C564967), brown tumors (MESH:D009369), calcification (MESH:D002114), chronic kidney disease (MESH:D051436), genu valgum (MESH:D056304), blood loss (MESH:D016063), secondary hyperparathyroidism (MESH:D006962)
- **Chemicals:** Calcitriol (MESH:D002117), creatinine (MESH:D003404), magnesium (MESH:D008274), bisphosphonates (MESH:D004164), calcium (MESH:D002118), 99mTc-MIBI (-), H&amp;E (MESH:D006371), furosemide (MESH:D005665), urea (MESH:D014508), MgSO4 (MESH:D008278), vitamin D (MESH:D014807), phosphorus (MESH:D010758), phosphate (MESH:D010710), cinacalcet (MESH:D000069449), calcium gluconate (MESH:D002125)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

45 references — full list in the complete paper: https://tomesphere.com/paper/PMC12945759/full.md

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Source: https://tomesphere.com/paper/PMC12945759