Ann Pediatr Endocrinol Metab.  2019 Sep;24(3):195-198. 10.6065/apem.2019.24.3.195.

Primary hyperparathyroidism versus familial hypocalciuric hypercalcemia: a challenging diagnostic evaluation in an adolescent female

  • 1Section of Diabetes and Endocrinology, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
  • 2Department of Surgery and Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.


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.


Hypercalcemia; Primary hyperparathyroidism; Familial hypocalciuric hypocalcemia; Parathyroid adenoma; Parathyroid hormone
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