PMID- 38021951
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231201
IS  - 2168-8184 (Print)
IS  - 2168-8184 (Electronic)
IS  - 2168-8184 (Linking)
VI  - 15
IP  - 10
DP  - 2023 Oct
TI  - Coexistence of a Calcium-Sensing Receptor Mutation and Primary 
      Hyperparathyroidism.
PG  - e46980
LID - 10.7759/cureus.46980 [doi]
LID - e46980
AB  - Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia (FHH) 
      are the main differential diagnoses in a patient presenting with parathyroid 
      hormone (PTH)-mediated hypercalcemia. PHPT is most often caused by a single-gland 
      parathyroid adenoma and FHH is the result of an inactivating mutation of the 
      calcium-sensing receptor (CaSR) gene. In this paper, we present a unique case of 
      the co-existence of an inactivating CaSR gene mutation and PHPT due to a 
      single-gland parathyroid adenoma. The patient is a 67-year-old female with a 
      history of recurrent nephrolithiasis who presented with hypercalcemia, elevated 
      PTH level, and hypocalciuria. As a result of the patient's hypocalciuria, 
      familial hypocalciuric hypercalcemia was suspected, and genetic testing was 
      pursued. CaSR gene analysis revealed a heterogeneous inactivating mutation of the 
      CaSR gene. Additionally, nuclear imaging with technetium sestamibi revealed a 
      large focus of activity on the right side of the neck suspicious of a parathyroid 
      adenoma. This was resected and confirmed to be a hypercellular parathyroid 
      adenoma. Two years after her surgery, the patient continues to have normal 
      calcium levels with no further episodes of nephrolithiasis. She is currently 
      undergoing treatment for osteoporosis and is being periodically monitored for 
      recurrence of hypercalcemia due to the presence of the inactivating CaSR gene 
      mutation. This case highlights an exceedingly rare case of a patient with both an 
      inactivating CaSR gene mutation and PHPT due to a single parathyroid adenoma, and 
      it underscores the importance of further research to determine any potential 
      relationship between the two.
CI  - Copyright (c) 2023, Russell et al.
FAU - Russell, Peyton
AU  - Russell P
AD  - Endocrinology and Metabolism, Medical University of South Carolina, Charleston, 
      USA.
FAU - Antony, Mc Anto
AU  - Antony MA
AD  - Endocrinology, AnMed Health, Anderson, USA.
LA  - eng
PT  - Case Reports
DEP - 20231013
PL  - United States
TA  - Cureus
JT  - Cureus
JID - 101596737
PMC - PMC10640877
OTO - NOTNLM
OT  - calcium-sensing receptor gene
OT  - casr mutation
OT  - familial hypocalciuric hypercalcemia
OT  - hypercalcemia
OT  - parathyroid gland adenoma
OT  - primary hyperparathyroidism
COIS- The authors have declared that no competing interests exist.
EDAT- 2023/11/29 18:42
MHDA- 2023/11/29 18:43
PMCR- 2023/10/13
CRDT- 2023/11/29 15:14
PHST- 2023/10/13 00:00 [accepted]
PHST- 2023/11/29 18:43 [medline]
PHST- 2023/11/29 18:42 [pubmed]
PHST- 2023/11/29 15:14 [entrez]
PHST- 2023/10/13 00:00 [pmc-release]
AID - 10.7759/cureus.46980 [doi]
PST - epublish
SO  - Cureus. 2023 Oct 13;15(10):e46980. doi: 10.7759/cureus.46980. eCollection 2023 
      Oct.