Table 4.

CDC73-Related Disorders: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Primary hyperparathyroidism
  • Measurement of concomitant serum calcium & iPTH
  • Serum 25-hydroxyvitamin D to evaluate for coexisting vitamin D deficiency as a cause of ↑ iPTH or unexpectedly "normal" calcium concentrations
Beginning by age 10 yrs
24-hour urine calcium-to-creatinine clearance ratioIn persons w/hypercalcemia
DXA scan to assess bone density of lumbar spine, hips, & distal radiusAs indicated
Jaw tumors Panoramic jaw x-ray w/neck shieldingBeginning at diagnosis
Renal lesions Renal US is preferred; CT &/or MRI as clinically indicated
Uterine tumors
  • Pelvic exam as part of routine gynecologic care
  • Pelvic US is preferred; CT &/or MRI as clinically indicated
Beginning in women at reproductive age
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of CDC73-related disorders to facilitate medical & personal decision making

DXA = dual-energy x-ray absorptiometry; iPTH = intact parathyroid hormone; MOI = mode of inheritance; US = ultrasound

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: CDC73-Related Disorders

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