Table 1.
Clinical presentation of early onset IAD patients carrying TPIT mutations
| Patient
|
Family
|
Onset of disease
|
Hypoglycemia
|
Prolonged cholestatic jaundice
|
Basal ACTHc (pg/mL)
|
Basal cortisold (nmol/L)
|
ACTH/cortisol response to CRH
|
Cortisol response to ACTH
|
TPIT mutation
|
|---|---|---|---|---|---|---|---|---|---|
| 1 | Ia | neonatal | + | <5 | 35 | n.d. | n.d. | R179X | |
| 2 | IIab | neonatal | + | + | 13 | <20 | no | no (acute) | R286X |
| yes (repeat) | |||||||||
| 3 | IIIa | neonatal | + | 17 | <20 | no | no (acute) | delA | |
| yes (repeat) | |||||||||
| 4 | IIIa | neonatal | + | <5 | <20 | n.d. | no (acute) | delA | |
| 5 | IVab | neonatal | + | <5 | 55 | no | no (acute) | T58A | |
| 6 | IVab | neonatal | + | <5 | 25 | no | no (acute) | T58A | |
| 7 | Vb | neonatal | + | + | 18 | 23 | n.d. | no (acute) | S128F, del 5.2 kb |
| 8 | VIa | neonatal | + | + | <5 | <20 | n.d. | no (acute) | I171T |
a
Consanguinity.
b
Neonatal death in another sibling (pts 2 and 7) or related subjects (pts 5 and 6).
c
Normal plasma ACTH concentration: 20–60 pg/mL.
d
Normal plasma cortisol concentration: 250–600 nmol/L
(n.d.) Not determined.