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KMID : 1036920190240030195
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Annals of Pediatric Endocrinology & Metabolism
2019 Volume.24 No. 3 p.195 ~ p.198
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Primary hyperparathyroidism versus familial hypocalciuric hypercalcemia: a challenging diagnostic evaluation in an adolescent female
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Tosur Mustafa
Lopez Monica E.
Paul David L.
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Abstract
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Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia (FHH) have significantly different treatment approaches, so physicians must be careful to differentiate these 2 diseases. Herein, we report a 14-year-old female who presented with symptomatic hypercalcemia (12 mg/dL; reference range, 9.2?10.7 mg/dL), elevated intact parathyroid hormone (iPTH) (236 pg/mL; reference range, 9?69 pg/mL), and vitamin D deficiency (6 ng/mL; reference range, ≥ 20 ng/mL). On numerous occasions, her 24-hour urine calcium was more than 4 mg/kg/day, consistent with PHPT, but her fractional excretion of calcium on 24-hour urine collection was consistently below 1%, in line with FHH. 99mTc-Sestamibi scan failed to detect any abnormalities. However, a 4-dimensional computed tomography scan of the neck revealed a right superior parathyroid adenoma which was excised with a focused parathyroidectomy. Although the patient’s calcium and iPTH levels normalized, her nonspecific symptoms persisted. This case illustrates both the challenges of differentiating PHPT from FHH and the limitations of a first-line imaging tool in identifying a parathyroid adenoma.
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KEYWORD
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Hypercalcemia, Primary hyperparathyroidism, Familial hypocalciuric hypocalcemia, Parathyroid adenoma, Parathyroid hormone
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