Juvenile primary hyperparathyroidism revealed by genu valgum

Arous Mohamed Khairi; Kacem Akid Faten Haj; Salah Dhoha Ben; Kouloud Boujelben; Nadia Charfi; Mouna Mnif; Mohamed Abid; Mouna Elleuch; Majdoub Nabila Rekik

doi:10.1530/endoabs.110.EP179

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Endocrine Abstracts (2025) 110 EP179 | DOI: 10.1530/endoabs.110.EP179

ECEESPE2025 ePoster Presentations Bone and Mineral Metabolism (142 abstracts)

Juvenile primary hyperparathyroidism revealed by genu valgum

Mohamed Khairi Arous ¹ , Faten Haj Kacem Akid ¹ , Dhoha Ben Salah ¹ , Kouloud Boujelben ¹ , Nadia Charfi ¹ , Mouna Mnif ¹ , Mohamed Abid ¹ , Mouna Elleuch ¹ & Nabila Rekik Majdoub ¹

Author affiliations

¹Hedi Chaker University Hospital, Department of Endocrinology, Sfax, Tunisia

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Introduction: Primary hyperparathyroidism is a rare condition in young individuals, primarily characterized by renal manifestations such as nephrolithiasis or nephrocalcinosis. Bone involvement, although less frequent, may present as limb deformities, often misdiagnosed as other bone lesions, thereby delaying diagnosis and appropriate management.

Case Report: An 18-year-old male with no significant medical history was hospitalized for primary hyperparathyroidism with severe hypercalcemia (3.28 mmol/l) and markedly elevated PTH levels (1500 ng/mL). His medical history revealed progressive asymmetry of the lower limbs, culminating in genu valgum and gait disturbances, which led to an orthopedic consultation. Initial MRI findings suggested an aneurysmal bone cyst of the left femur, prompting surgical indication. However, a second orthopedic opinion noted diffuse bone demineralization on standard radiographs, leading to a phosphocalcic workup. The diagnosis of primary hyperparathyroidism was confirmed by biochemical tests. Cervical ultrasound revealed a left parathyroid adenoma (24 × 16 mm), further corroborated by parathyroid scintigraphy showing hyperfunction in the same region. No renal involvement was identified. A multiple endocrine neoplasia (MEN) panel was negative, ruling out a syndromic origin. The patient underwent surgery, with favorable clinical and biochemical outcomes.

Discussion and Conclusion: This case highlights an atypical form of juvenile primary hyperparathyroidism dominated by bone manifestations, such as brown tumors, misdiagnosed as benign lesions like aneurysmal bone cysts, leading to a genu valgum deformity. Although less common than renal manifestations, bone involvement should prompt a phosphocalcic workup, especially in the presence of diffuse bone demineralization, before considering precipitous surgical management.