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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 4.

Multiple Endocrine Neoplasia Type 4: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
General
  • Referral to endocrinologist w/experience in MEN
  • Assess for clinical manifestations of endocrine tumors (e.g., kidney stones, signs of cortisol, GH, or prolactin excess, excessive nausea, vomiting, or diarrhea)
PHPT Serum calciumIn those age ≥25 yrs
Further testing (e.g., PTH, vitamin D, 24-hr urine calcium) & referral to surgery for those w/laboratory findings of PHPT.
Pituitary adenoma
  • Pituitary MRI
  • Serum hormone testing (ACTH, cortisol, IGF-1, prolactin) guided by clinical suspicion
In those age ≥25 yrs
Dynamic testing of GH or cortisol axis may be needed if screening tests indicate possible hormonal abnormalities (e.g., glucose suppression test for ↑ GH/IGF-1 or dexamethasone suppression testing for ↑ cortisol).
Neuroendocrine tumor
  • Abdominal imaging (e.g., contrast-enhanced CT or MRI)
  • Note: Endoscopic ultrasound is more sensitive but more invasive.
In those age ≥25 yrs
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of MEN4 to facilitate medical & personal decision making

ACTH = adrenocorticotrophic hormone; GH = growth hormone; IGF-1 = insulin-like growth factor 1; MEN = multiple endocrine neoplasia; MEN4 = multiple endocrine neoplasia type 4; MOI = mode of inheritance; PHPT = primary hyperparathyroidism; PTH = parathyroid hormone

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Multiple Endocrine Neoplasia Type 4

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