Table 1.
Demographic and genetic details of participants
| DC patients treated with androgens (n = 10) | DC patients never treated with androgens (n = 16) | |
|---|---|---|
| Feature* | ||
| Median age at baseline TL measurement (range), y | 7 (3-46) | 21 (0-48) |
| Median age at most recent TL measurement (range), y | 13.5 (3-48) | 27 (3-60) |
| Median follow-up time (range), y | 5 (1-15) | 6 (2-15) |
| Male:female | 9:1 | 3:1 |
| Gene (inheritance) (%) | ||
| DKC1 (XLR) | 3 (30) | 1 (6) |
| TERT (AD) | 0 (0) | 3 (19) |
| TERC (AD) | 1 (10) | 2 (12) |
| TINF2 (AD) | 2 (20) | 4 (25) |
| RTEL1(AD/AR†) | 2 (20) | 1 (6) |
| PARN (AR) | 1 (10) | 3 (19) |
| Unknown | 1 (10) | 2 (12) |
AD, autosomal dominant; AR, autosomal recessive; DKC1, dyskerin; PARN, poly(A)-specific ribonuclease; RTEL1, regulator of telomere elongation helicase 1; TERC, telomerase RNA component; TERT, telomerase reverse transcriptase; TINF2, TRF1-interacting nuclear factor 2; XLR, X-linked recessive.
*
P values of age at baseline TL, age at most recent TL, length of follow-up, and sex were all >.05.
†
RTEL1 is AD inheritance in 1 treated and 1 untreated patient, and AR in 1 treated patient.