Primary hyperparathyroidism versus familial hypocalciuric hypercalcemia: a challenging diagnostic evaluation in an adolescent female
10.6065/apem.2019.24.3.195
- Author:
Mustafa TOSUR
1
;
Monica E LOPEZ
;
David L PAUL
Author Information
1. Section of Diabetes and Endocrinology, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA. mustafa.tosur@bcm.edu
- Publication Type:Case Report
- Keywords:
Hypercalcemia;
Primary hyperparathyroidism;
Familial hypocalciuric hypocalcemia;
Parathyroid adenoma;
Parathyroid hormone
- MeSH:
Adolescent;
Calcium;
Female;
Humans;
Hypercalcemia;
Hyperparathyroidism, Primary;
Neck;
Parathyroid Hormone;
Parathyroid Neoplasms;
Parathyroidectomy;
Reference Values;
Urine Specimen Collection;
Vitamin D Deficiency
- From:Annals of Pediatric Endocrinology & Metabolism
2019;24(3):195-198
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
