Table 2

Investigations

Case 1 (V.8)Case 2 (V.9)Case 3 (V.3)
Blood glucose (mmol/l)4024–3729
C peptide (pmol/l)88<165<165
Insulin<25 pmol/l2.7 mU/l
Insulin autoantibodies-ve
IRTVery low
Atypical transferrin glycoforms-ve
Karyotype 46,XX46,XX46,XX
UPD6 NoNoNo
IPF1 Pro63fsdelC mutation-ve
3243 mitochondrial mutation-ve