Table 3.
Clinical and cytogenetic characteristics of the used DSDs cohort.
| ID | Assigned SEXE | Age Month | Reason for Consultation |
FISH (SRY) | Karyotypes | Telomere Length (kb) | Telomere Loss/Cell | Telomere Doublet/Cell | Additional Chromosome Aberrations |
|---|---|---|---|---|---|---|---|---|---|
| YH001 | M | 0 | Micropenis and cryptorchidism | XY (SRY+) | 46,XY | 9.31 | 0.78 | 1.52 | |
| YH002 | M | 178 | Micropenis and cryptorchidism) | XY (SRY+) | 46,XY | 8.5 | 1.35 | 0.35 | |
| YH003 | F | 3 | Prader Type I | XX (SRY−) | 46,XX | 9.15 | 2.17 | 1.17 | |
| YH004 | M | 0 | ND | XY (SRY+) | 46,XY | 7.66 | 1.5 | 1.05 | DNA fragmentation Dicentric with interstitial telomeres |
| YH005 | M | 4 | Clitoral hypertrophy | XX (SRY−) | 46,XX | 6.32 | NA | NA | |
| YH006 | M | 33 | ND | XY (SRY+) | 46,XY | 7.57 | 2.19 | 2 | |
| YH007 | M | 19 | Hypospadias | XY (SRY+) | 46,XY | 8.09 | 1.52 | 1.08 | |
| YH008 | M | 120 | Micropenis and cryptorchidism | 28% XY/57% X (SRY+) | 45,X[28]/46,XY[20] | 6.09 | NA | NA | |
| YH009 | M | 7 | Hypospadias | ish(DXZ1x2,SRYx1)[85/200] (SRY+) | 46,XY[115]/47,XXY[85] | 8.21 | 1.06 | 1.71 | |
| YH010 | F | 42 | Clitoral hypertrophy | XX (SRY−) | 46,XX | 7.29 | 0 | 0 | |
| YH011 | M | 1 | ND | XY (SRY+) | 46,XY | 5.42 | 0 | 0 | |
| YH012 | M | 166 | Hypogonadism and gynecomastia | XY (SRY+) | 46,XY | 8.12 | 0 | 0 | |
| YH013 | F | 3 | Clitoral hypertrophy | XY (SRY+) | 46,XY | 9.85 | 0.94 | 1.03 | |
| YH014 | F | 0 | Clitoral hypertrophy | XX (SRY−) | 46,XX | 9.47 | 0.37 | 0.3 | Chromosomal breakage 46,XX,del(15)(q10q26) |
| YH015 | F | 180 | Statural retardation and Turner syndrome | 71% XX/29% X (SRY−) | 46,XX[12]/45,X[5] | 9.55 | 1.59 | 0.42 | |
| YH016 | ND | ND | XX (SRY−) | 46,XX | 5.56 | 1.28 | 0.09 | chromatid fusion of ch 8 and 10 | |
| YH017 | M | 13 | ND | XY (SRY+) | 46,XY | 5.83 | 1.65 | 0.35 | chromatid fusion of ch 15 and 4 chromatid fusion of ch 15 and 9 |
| YH018 | ND | 0 | ND | XY (SRY+) | 46,XY | 6.71 | 0.6363636364 | 0.09090909091 | |
| YH019 | ND | 0 | ND | XX (SRY−) | 46,XX | 8.18 | 0.5 | 0.125 | |
| YH020 | M | 130 | Hypospadias | XY (SRY+) | 46,XY | 7.42 | 1.8 | 1.13 | Chromosome 2 breakage |
| YH021 | ND | 0 | ND | XY (SRY+) | 46,XY | 5.5 | 1.75 | 1.25 | |
| YH022 | M | 27 | Micropenis and cryptorchidism | XY (SRY+) | 46,XY | 5.7 | 3 | 1 | |
| YH023 | F | 23 | Clitoral hypertrophy | XX (SRY−) | 46,XX | 6.34 | NA | NA | |
| YH024 | M | 11 | Micropenis and cryptorchidism | XY (SRY+) | 46,XY | 5.67 | NA | NA | |
| YH025 | F | 17 | external Genitalia Anomaly | XX (SRY−) | 46,XX | 6.39 | 1 | 1 | |
| YH026 | F | 0 | Clitoral hypertrophy | XX (SRY−) | 46,XX | 7.02 | NA | NA | |
| YH027 | F | 0 | XX (SRY−) | 46,XX | 5.8 | NA | NA | ||
| YH028 | ND | 0 | Polymalformation | XY (SRY+) | 46,XY | 6.42 | 8 | 0 | |
| YH029 | M | 1 | ND | XY (SRY+) | 46,XY | 6.25 | NA | NA | |
| YH030 | M | 7 | Ovotestis | XX (SRY−) | 46,XX | 4.33 | 3.83 | 0.8 | Acentric chromosome |
| YH031 | F | 30 | Prader Type II | XY (SRY+) | 46,XY | 5.57 | 3.333 | 0.33 | |
| YH032 | M | 1 | hypospadias | XY (SRY+) | 46,XY | 7.14 | 1.47 | 0.87 | Chromosome breakage |
| YH033 | F | 35 | ND | XX (SRY−) | 46,XX | 6.84 | 2.67 | 0.374 | DNA Fragmentation |
| YH034 | F | 3 | ND | XX (SRY−) | 46,XX | 6.01 | 0.5 | 0.42 | |
| YH035 | F | 2 | Micro penis | XY (SRY+) | 46,XY | 5.68 | 0.8 | 0.5 |