Table 3.
Characteristics of patients with TARTs.
| Case/phenotype | CYP21A2 haplotype (allele 1/allele 2) | Age at dg. of CAH | Age at dg. of TARTs | Tanner stage at dg. of TARTs | Hormonal control 17-OHP (ug/l) |
Treatment non-compliance |
|---|---|---|---|---|---|---|
| Patient 1/SW-CAH | c.293-13A/C>G/c.293-13A/C>G | 7 days | 9 years | 3 | 69.7 (poor) | yes |
| Patient 2/SW-CAH | c.293-13A/C>G/p.Leu307Phefs*5 | 26 days | 8 years | 2 | 70 (poor) | yes |
| Patient 3/SW-CAH | c.293-13A/C>G/c.293-13A/C>G + p.Pro454Ser | 30 days | 22 | 5 | 241.6 (poor) | yes |
| Patient 4/SW-CAH | c.293-13A/C>G/c.293-13A/C>G + p.Pro454Ser | 7 days | 24 | 5 | 330 (poor) | yes |
| Patient 5/SW-CAH | p.Pro454Ser + cluster ex6 + p.Ile172Asn/c.293-13A/C>G | 15 days | 10 | 5 | 660.5 (poor) | yes |
| Patient 6/SW-CAH | c.293-13A/C>G + p.Val282Leu/del | 30 days | 13 | 4 | 85.7 (poor) | yes |
| Patient 7/SW-CAH | c.293-13A/C>G + cluster ex6 + p.Val282Leu + p.Gln319Ter/prom.conv + p.Leu307Phefs*5 + p.Gln319Ter | 9 days | 19 | 5 | 67.70 (poor) | yes |
TART, testicular adrenal rest tumour; CAH, congenital adrenal hyperplasia; SW-CAH, salt-wasting form; SV-CAH, simple virilizing form; NC-CAH, non-classic form; dg, diagnosis; del, CYP21 gene deletion; prom conv, gene conversion in promoter region; cluster ex6, cluster mutation in exon6; 17-OHP, 17-hydroxyprogesterone.