Parameter | Family member | ||||||
---|---|---|---|---|---|---|---|
I:2 | II:3 | II:5 | III:4 | III:6 | III:7 | III:8 | |
wt, Wild type sequence | |||||||
Reference ranges: total serum calcium 2.20–2.60 mmol/l; intact serum PTH 10–60 ng/l. | |||||||
Sex | M | F | M | M | M | M | M |
Present age (years) | 79 | 53 | 45 | 27 | 19 | 9 | 9 |
Age at parathyroid first surgery | 59 | 32 | 21 | 25 | – | – | – |
Serum calcium (mmol/l) | 2.72 | 2.87 | 3.32 | 3.20 | 2.22 | 2.57 | 2.55 |
Serum PTH (pg/ml) | 70 | 74 | ND | 138 | 34 | 25.4 | 53.0 |
No. of pathological glands removed | 2 | 2 | 3 | 1 | – | – | – |
Histopathological diagnosis | Hyperplasia | Adenoma ×1 | Adenoma ×2/hyperplasia | Adenoma | – | – | – |
Disease associated haplotype | Yes | Yes | Yes | Yes | No | Yes | Yes |
HRPT2 sequence | IVS2+1G→C | IVS2+1G→C | IVS2+1G→C | IVS2+1G→C | wt | IVS2+1G→C | IVS2+1G→C |