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. 2018 Mar 12;7(4):544–552. doi: 10.1530/EC-18-0097

Table 1.

Clinical data, genetics and TART characteristics.

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.