PMID- 31607113
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200930
IS  - 2287-1012 (Print)
IS  - 2287-1292 (Electronic)
IS  - 2287-1012 (Linking)
VI  - 24
IP  - 3
DP  - 2019 Sep
TI  - Primary hyperparathyroidism versus familial hypocalciuric hypercalcemia: a 
      challenging diagnostic evaluation in an adolescent female.
PG  - 195-198
LID - 10.6065/apem.2019.24.3.195 [doi]
AB  - 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.
FAU - Tosur, Mustafa
AU  - Tosur M
AD  - Section of Diabetes and Endocrinology, Department of Pediatrics, Texas Children's 
      Hospital, Baylor College of Medicine, Houston, TX, USA.
FAU - Lopez, Monica E
AU  - Lopez ME
AD  - Department of Surgery and Pediatrics, Texas Children's Hospital, Baylor College 
      of Medicine, Houston, TX, USA.
FAU - Paul, David L
AU  - Paul DL
AD  - Section of Diabetes and Endocrinology, Department of Pediatrics, Texas Children's 
      Hospital, Baylor College of Medicine, Houston, TX, USA.
LA  - eng
PT  - Case Reports
DEP - 20190930
PL  - Korea (South)
TA  - Ann Pediatr Endocrinol Metab
JT  - Annals of pediatric endocrinology & metabolism
JID - 101588279
PMC - PMC6790872
OTO - NOTNLM
OT  - Familial hypocalciuric hypocalcemia
OT  - Parathyroid adenoma
OT  - Parathyroid hormone
OT  - Primary hyperparathyroidism
OT  - Hypercalcemia
EDAT- 2019/10/15 06:00
MHDA- 2019/10/15 06:01
PMCR- 2019/09/01
CRDT- 2019/10/15 06:00
PHST- 2018/09/13 00:00 [received]
PHST- 2018/10/30 00:00 [accepted]
PHST- 2019/10/15 06:00 [entrez]
PHST- 2019/10/15 06:00 [pubmed]
PHST- 2019/10/15 06:01 [medline]
PHST- 2019/09/01 00:00 [pmc-release]
AID - apem.2019.24.3.195 [pii]
AID - apem-2019-24-3-195 [pii]
AID - 10.6065/apem.2019.24.3.195 [doi]
PST - ppublish
SO  - Ann Pediatr Endocrinol Metab. 2019 Sep;24(3):195-198. doi: 
      10.6065/apem.2019.24.3.195. Epub 2019 Sep 30.