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Year : 2022  |  Volume : 12  |  Issue : 1  |  Page : 41-44

Sporadic primary hyperparathyroidism mimicking rickets in a child: A diagnostic challenge

Department of Endocrinology, Gandhi Medical College and Hospital, Secunderabad, Hyderabad, Telangana, India

Correspondence Address:
Vijay Sheker R Danda
Department of Endocrinology, Gandhi Medical College and Hospital, Musheerabad, Secunderabad 500003, Hyderabad, Telangana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ajem.ajem_6_21

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Primary hyperparathyroidism (PHPT) is very rare in children and adolescents. Here, we report a case of a 9-year-old boy with PHPT who presented with skeletal manifestations of rickets. Biochemical investigations initially revealed vitamin D deficiency. Re-evaluation due to the lack of clinical improvement following vitamin D supplementation revealed hypercalcemia and elevated parathyroid hormone. 99mTc-sestamibi scan found a right inferior parathyroid adenoma, and genetic analysis did not find any pathogenic variant. The excision of parathyroid adenoma led to the resolution of all clinical features. In a child with rickets, the absence of resolution of clinical features after vitamin D supplementation and hypercalcemia at presentation, or after vitamin D supplementation, needs further evaluation to rule out PHPT.

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