PMID- 34736428
OWN - NLM
STAT- MEDLINE
DCOM- 20220302
LR  - 20220302
IS  - 1472-6823 (Electronic)
IS  - 1472-6823 (Linking)
VI  - 21
IP  - 1
DP  - 2021 Nov 4
TI  - Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia 
      features: a case report and literature review.
PG  - 220
LID - 10.1186/s12902-021-00881-9 [doi]
LID - 220
AB  - BACKGROUND: Primary hyperparathyroidism (PHPT) and familial hypocalciuric 
      hypercalcemia (FHH) are the most important differential diagnosis of parathyroid 
      hormone (PTH)-dependent hypercalcemia. The clinical features of FHH and PHPT can 
      overlap in some cases. Therefore, these two diseases must be differentiated to 
      prevent unnecessary parathyroidectomy. Here, we present a case that was not 
      entirely matched with any of the known differential diagnoses of hypercalcemia. 
      CASE PRESENTATION: A 19-year-old girl with no history of any disease presented 
      with persistent hypercalcemia without any specific musculoskeletal complaint. We 
      found persistent hypercalcemia in her routine laboratory data from 3 years ago; 
      while no data was available during the childhood period. Her dietary calcium 
      intake was normal. She did not mention any history of renal stone, bone fracture 
      as well as family history of hypercalcemia. Biochemical features showed normal 
      values of serum creatinine, high normal serum calcium (range, 10.3-11.3 mg/dL; 
      (normal range: 8.8-10.4)), and non-suppressed PTH levels (range, 37.2-58.1 pg/mL; 
      (normal range: 10-65)). Serum 25 OH vitamin D level at the first visit was 
      16.1 ng/mL that treated by vitamin D supplementation. Since then, all 25 OH 
      vitamin D levels were in the acceptable range. After correction of vitamin D 
      deficiency during the follow-up period the calcium creatinine clearance ratio(s) 
      (CCCR) were calculated in the range of 0.009 to 0.014 (means below 1%). The 
      clinical and laboratory data indicate more FHH rather than PHPT. Genetic studies 
      were negative for the common genes associated with FHH (CASR, GNA11, and AP2S1 
      genes) and multiple endocrine neoplasia type1 (MEN1). On the other hand, no 
      evidence of autoimmunity was found in her to support an autoimmune FHH-like 
      syndrome. Hence, the case did not match completely to any diagnosis of FHH and 
      PHPT, so we decided to follow her. CONCLUSION: We presented a patient with FHH 
      phenotype whose common genetic tests were negative. Further research is needed to 
      ascertain other causes leading to similar manifestations.
CI  - (c) 2021. The Author(s).
FAU - Zahedi, Maryam
AU  - Zahedi M
AD  - Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid 
      Beheshti University of Medical Sciences, Tehran, Iran.
FAU - Hizomi Arani, Reyhane
AU  - Hizomi Arani R
AD  - Prevention of Metabolic Disorders Research Center, Research Institute for 
      Endocrine Sciences, Shahid Beheshti University of Medical Sciences, P.O. Box: 
      19395-4763, No. 24, Parvaneh Street, Velenjak, Tehran, Iran.
FAU - Rafati, Maryam
AU  - Rafati M
AD  - Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, 
      Tehran, Iran.
AD  - Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran.
FAU - Amouzegar, Atieh
AU  - Amouzegar A
AD  - Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid 
      Beheshti University of Medical Sciences, Tehran, Iran. Amouzegar@endocrine.ac.ir.
FAU - Hadaegh, Farzad
AU  - Hadaegh F
AUID- ORCID: 0000-0002-8935-2744
AD  - Prevention of Metabolic Disorders Research Center, Research Institute for 
      Endocrine Sciences, Shahid Beheshti University of Medical Sciences, P.O. Box: 
      19395-4763, No. 24, Parvaneh Street, Velenjak, Tehran, Iran. 
      fzhadaegh@endocrine.ac.ir.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
DEP - 20211104
PL  - England
TA  - BMC Endocr Disord
JT  - BMC endocrine disorders
JID - 101088676
RN  - 0 (Parathyroid Hormone)
RN  - AYI8EX34EU (Creatinine)
RN  - SY7Q814VUP (Calcium)
RN  - Hypocalciuric hypercalcemia, familial, type 1
SB  - IM
MH  - Calcium/blood
MH  - Creatinine/blood
MH  - Diagnosis, Differential
MH  - Female
MH  - Genetic Testing
MH  - Humans
MH  - Hypercalcemia/*blood/complications/*congenital/diagnosis/etiology
MH  - Hyperparathyroidism, Primary/blood/*diagnosis
MH  - Parathyroid Hormone/blood
MH  - Phenotype
MH  - Young Adult
PMC - PMC8567632
OTO - NOTNLM
OT  - Case report
OT  - Endocrinology and metabolism
OT  - Familial Hypocalciuric hypercalcemia
OT  - Persistent hypercalcemia
OT  - Primary hyperparathyroidism
COIS- The authors declare that they have no competing interests.
EDAT- 2021/11/06 06:00
MHDA- 2022/03/03 06:00
PMCR- 2021/11/04
CRDT- 2021/11/05 05:30
PHST- 2021/07/05 00:00 [received]
PHST- 2021/10/22 00:00 [accepted]
PHST- 2021/11/05 05:30 [entrez]
PHST- 2021/11/06 06:00 [pubmed]
PHST- 2022/03/03 06:00 [medline]
PHST- 2021/11/04 00:00 [pmc-release]
AID - 10.1186/s12902-021-00881-9 [pii]
AID - 881 [pii]
AID - 10.1186/s12902-021-00881-9 [doi]
PST - epublish
SO  - BMC Endocr Disord. 2021 Nov 4;21(1):220. doi: 10.1186/s12902-021-00881-9.