Table 1.
Patient | Age at diagnosis/clinical form | Ultrasound follow-up before TART (years) | Age at Dg of TART (years) | Tanner stage/tumor stage | Genotype allele 1/allele 2 | Metabolic control | MRI/histology | TART after tightened control |
---|---|---|---|---|---|---|---|---|
1a,b | Newborn/SW | 4 | 14.9 | 4/4 | p.Q318X/p.Q318X | Poor | +/+ | Larger |
2 | Newborn/SW | 7 | 12.5 | 3/3 | In2G/In2G | Poor | NA/NA | Smaller |
3c | Newborn/SW | 4 | 14 | 5/5 | In2G/In2G | Poor | +/+ | Larger |
4b | Newborn/SW | 7.5 | 15.3 | 5/2 | In2G/p.Q318X | Poor | +/NA | Smaller |
5 | 9 years/SV | 5 | 11 | 2/2 | p.P30L/p.P30L | Tight | NA/NA | Unchanged |
6d | 2 years/SV | 5 | 7 | 1/2 | p.I172N/p.I172N | Tight | +/NA | Unchanged |
7 | Newborn/SW | 9 | 16 | 5/2 | del8bp ex3/del8bp ex3 | Tight | +/NA | Smaller |
8 | 9 years/SV | 7 | 10 | 1/2 | In2G/In2G | Poor | NA/NA | Unchanged |
aPatient developed mixed ALL/AML leukemia; bpatient has a brother with the same mutation and metabolic control, but no TART; cLeydig cell tumor suspected; dpreviously unreported genotype.
MRI, magnetic resonance imaging; NA, non-applicable; SV, simple virilizing; SW, salt wasting; TART, testicular adrenal rest tumors.