Table 1

Clinical and genetic details of family 1 with FIHP in the study

ParameterFamily member
I:2II:3II:5III:4III:6III:7III:8
wt, Wild type sequence
Reference ranges: total serum calcium 2.20–2.60 mmol/l; intact serum PTH 10–60 ng/l.
SexMFMMMMM
Present age (years)795345271999
Age at parathyroid first surgery59322125
Serum calcium (mmol/l)2.722.873.323.202.222.572.55
Serum PTH (pg/ml)7074ND1383425.453.0
No. of pathological glands removed2231
Histopathological diagnosisHyperplasiaAdenoma ×1Adenoma ×2/hyperplasiaAdenoma
Disease associated haplotypeYesYesYesYesNoYesYes
HRPT2 sequenceIVS2+1G→CIVS2+1G→CIVS2+1G→CIVS2+1G→CwtIVS2+1G→CIVS2+1G→C