Table 2.
Phenotypes of five males with 45,X/46,X(r)Y karyotype.
| Pt | Age Race | Height Inches (centile) | Testes volume (R;L) | FSH | LH | T | Karyotype | Molecular Analysis | Sperm &/or testicular histology |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 8 AA |
45 (<5) |
1 mL 1 mL |
0.7 | 0.5 | 17 | Blood: mos 45,X[10]/46,X,r(Y)[40] L Testis: mos 45,X[18]/46,X,r(Y)[32] R Testis: mos 45,X[15]/46,X,r(Y)[35] |
PCR positive for SRY Southern blot positive for SRY, ZFY, DYZ3, pDP105 (12) |
Few germ cells No Leydig cells Bilateral Calcinosis |
| 2 | 7 C |
46 (<5) | 2 mL 2 mL |
NA | NA | <20 | Blood: mos 45,X[3]/46,X,r(?Y)[47] | Southern blot: positive for SRY, ZFY, DYZ3, pDP105 (12) Negative for 4B2 probe (distal interval 6) (19) |
NA |
| 3 | 29 AA |
48.5 (<3) |
3mL 3mL |
16.5 | 17 | 570 | Blood: mos 45,X[9]/46,X, r(Y)[41] Blood:mos 45,X[12]/46,X,+mar[37]/47,X,+mar,+mar[1] |
Not performed | Azoospermia Fibrosis L testis Biopsy |
| 4 | 36 C |
67.5 (25) |
8mL 8mL |
30 | 22 | 360 | Blood: mos 45,X[14]/46,X,r(?Y)[36] Skin: mos 45,X[5]/46,X,r(?Y)[45] |
Southern blot: positive for DYZ3 (20) | Azoospermia; Germinal aplasia; maturation arrest, Leydig cell hyperplasia |
| 5 | 32 C |
66 (10) |
15 mL 10 mL |
1.5 | 1.9 | 464 | Blood: mos 45,X[13]/46,X,r(?Y)[37] | ishr(Y)(wcpX+,wcpY+, DYZ3+, SRY+, DXZ1−) 18 STS: positive Yq11 Molecular mapping: all Y positive except Yq12 |
2×106 Spermatocyte arrest and sloughing |
AA= African American; C=Caucasian; NA=not available; R=right; L=left. T=testosterone in ng/dL; LH and FSH in mIU/mL. DYZ3 is a Y centromeric sequence, while Y97 is a Y centromere DNA probe. The number of cells analyzed for each karyotype is indicated in brackets according to standard nomenclature.