Table 1. Clinical, biochemical and genetic data for cohort.
Benign Parathyroid Disease |
Parathyroid Carcinoma |
Entire Cohort | |
---|---|---|---|
Gender | |||
Male/Female | 7/3 | 3/3 | 10/6 |
Age at Diagnosis (years) | |||
Median | 26.4 | 29.9 | 30.7 |
Range | 18-38 | 31-49 | 18-49 |
Signs/Symptoms at Presentation | |||
Psychiatric/Neurologic * | 4/10 (40.0%) | 3/6 (50%) | 7/16 (43.8%) |
Fatigue | 5/10 (50.0%) | 1/6 (16.7%) | 6/16 (37.5%) |
GastrointestinaI symptoms ** | 2/10 (20.0%) | 3/6 (50%) | 5/16 (31.3%) |
Renal *** | 2/10 (20.0%) | 1/6 (16.7%) | 3/16 (18.8%) |
Bony pain | 3/10 (30.0%) | 4/6 (66.7%) | 3/16 (18.8%) |
Fractures | 1/10 (10.0%) | 1/6 (16.7%) | 2/16 (12.5%) |
Neck mass | 0/10 (0%) | 1/6 (16.7%) | 1/16 (6.3%) |
Laboratory Findings | |||
Average total calcium § | 11.7 mg/dl | 13.1 mg/dl | 12.2 mg/dl |
Intact PTH (benign parathyroid disease)? | 212.6 pg/ml | 356.5 pg/ml | 236.6 pg/ml |
Associated Pathology | |||
Uterine tumor | 0/3 (0%) | 2/3 (66.7%) | 2/6 (33.3%) |
Renal lesions | 0/10 (0%) | 3/6 (50.0%) | 3/16 (18.8%) |
Jaw tumor | 0/10 (0%) | 2/6 (12.5%) | 2/16 (12.5%) |
Genetics/Mutation Type | |||
CDC73 (whole gene deletion) | 3/10 (30.0%) | 4/6 (66.7%) | 7/16 (43.8%) |
c.687_688dupAG (exon 7) | 3/10 (30.0%) | 2/6 (33.3%) | 5/16 (31.3%) |
Y552 (exon 2) | 2/10 (20.0%) | 0/6 (0%) | 2/16 (12.5%) |
R222X (exon 7) | 1/10 (10.0%) | 0/6 (0%) | 1/16 (6.3%) |
R76X (exon 2) | 1/10 (10.0%) | 0/6 (0%) | 1/16 (6.3%) |
Post-operative Complications | |||
Hypoparathyroidism (permanent) | 1/10 (10.0%) | 1/6 (16.7%) | 2/16 (12.5%) |
Permanent recurrent laryngeal nerve injury ¶# | 0/10 (0%) | 0/10 (0%) | 0/16 (0%) |
Hematoma | 0/10 (0%) | 0/10 (0%) | 0/16 (0%) |
Follow-Up (years) | |||
Median | 2.3 | 7.4 | 3.7 |
Range | 0.05-13.4 | 0.04-11.4 | 0.05-13.4 |
Headaches, memory loss/changes, difficulty concentrating
Abdominal pain, constipation, Gastroesophageal Reflux Disease (GERD)
Polyuria, nephrolithiasis
Total calcium reference range (8.5 – 10.2 mg/dl)
Intact PTH reference range (10 – 55 pg/ml)
At initial operation.
1 patient had RLN injury during the 2nd operation.