Research Article
Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma
Table 1
Clinical features of the three subjects reported in the literature with MEN1 syndrome and AA.
| | Sex | Age | Caa | PTHb | Parathyroid | Nephrolythiasis | MEN1 mutation | Other MEN1-related tumors | Others | Ref. |
| ID1 | M | 50 | 3.22 nmol/L | 215 pmol/L | 2 × 2.9 cm, 14 g | Bilateral | c.253A>T | Acromegalia, pituitary and adrenal, lipomas | CKD | Christakis et al. [18] |
| ID2 | F | 32 | 12 mg/dL | NA | 0.7 cm | No | NA | Pancreas and thymus | No | Pal et al. [20] |
| ID3 | F | 44 | 14 mg/dL | 1347 pg/mL | 2 cm | Bilateral | c.912+1G>A | No | No | Present work |
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aNormal range: 1.12–1.32 mmol/L or 8.4–10.2 mg/dL; bnormal range 15–65 pg/mL; CKD = chronic kidney disease.
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