Table 4. [CDC73-Related Disorders: Recommended Evaluations Following Initial Diagnosis]. - GeneReviews®

System/Concern	Evaluation	Comment
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 ratio	In persons w/hypercalcemia
DXA scan to assess bone density of lumbar spine, hips, & distal radius	As indicated
Jaw tumors	Panoramic jaw x-ray w/neck shielding	Beginning 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 ¹	To inform affected persons & their families re nature, MOI, & implications of CDC73-related disorders to facilitate medical & personal decision making

System/Concern

Evaluation

Comment

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 ratio

In persons w/hypercalcemia

DXA scan to assess bone density of lumbar spine, hips, & distal radius

As indicated

Jaw tumors

Panoramic jaw x-ray w/neck shielding

Beginning 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 ¹

To inform affected persons & their families re nature, MOI, & implications of CDC73-related disorders to facilitate medical & personal decision making

From: CDC73-Related Disorders

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