Multiple endocrine neoplasia type 2 laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]

Overview

Laboratory findings consistent with the diagnosis of multiple endocrine neoplasia type 2 include hypercalcemia, hypophosphatemia, elevated parathyroid hormone, and elevated norepinephrine.

Laboratory Findings

  • Laboratory findings consistent with the diagnosis of multiple endocrine neoplasia type 2 are tabulated below.
Laboratory findings
Test Findings
Metabolic Hypophosphatemia
Hypercalcemia
Elevated calcitonin
Elevated epinephrine
Elevated norepinephrine
Elevated metanephrine
Elevated vanillylmandelic acid
Elevated parathyroid hormone
Elevated pentagastrin
Urinalysis Elevated norepinephrine
Elevated metanephrine
Elevated vanillylmandelic acid
Adapted from Marquard J, Eng C. Multiple Endocrine Neoplasia Type 2. 1999 Sep 27 [Updated 2015 Jun 25]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1257/[1]


Laboratory tests Normal Range Abnormal value
Serum
Serum phosphate 2.4 to 4.1 mg/dL <2.4 or >4.1
Serum calcium 8.5-10.2 mg/dL <8.5 or >10.2 mg/dL
Serum calcitonin less than 10pg/mL >=100 pg/mL
Serum epinephrine less than 30 pg/mL > 30 pg/mL
Serum metanephrine less than 30 pg/mL > 30 pg/mL
Serum parathyroid hormone 10-65 pg/mL <10 pg/mL or >65 pg/mL
Urine
Epineprhine 0.5 - 20 mcg/24 hours >20 mcg/24 hours
Metaneprhrine 24 - 96 mcg/24 hours > 96 mcg/24 hours
Norepinephrine 15 - 80 mcg/24 hours >80 mcg/24 hours
Normetanephrine 75 - 375 mcg/24 hours >375 mcg/24 hours
Total urine catecholamines 14 - 110 mcg/24 hours >110 mcg/24 hours
Total vanillylmandelic acid 2 - 7 milligrams (mg)/24 hours >7 milligrams (mg)/24 hours

References

  1. Jessica Marquard & Charis Eng (1993). "Multiple Endocrine Neoplasia Type 2". PMID 020301434.

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