Table 12-10.
Pathologic findings in infertile men with Y chromosome anomalies in the YQ11 region
| Karyotype | External genitalia | Testicular lesions | Associated anomalies |
|---|---|---|---|
| 46XYq | Small testes | Tubular hyalinization, Sertoli cell-only, spermatogenetic maturation arrest | Low stature, mental retardation, gynecomastia |
| 46XYnf | Small and soft testes, small penis, ambiguous genitalia, cryptorchidism, hypospadias | Tubular hyalinization, Sertoli cell-only, Leydig cell hyperplasia, decreased spermatid number | Low stature, gynecomastia |
| 45X0 | |||
| 46Xr(Y) | Small testes, cryptorchidism, hypospadias | Sertoli cell-only, spermatogenetic arrest in premeiotic spermatocytes | Low stature |
| 45X0 | |||
| 46Xt(Yp11,Yq11) 45X0 | Small and soft testes, hypospadias | Spermatogenetic arrest in premeiotic spermatocytes, decreased spermatid number | Low stature |
| 46Yt(Xp22,Yq11) | Small testes, small penis | Spermatogenetic arrest in premeiotic spermatocytes | Mental retardation, digital anomalies, facial dysmorphism |
| 46XYqt(Yq11-qter,A) | Normal or small testes | Spermatogenetic arrest in premeiotic spermatocytes | |
| 46Xt(Yq11-pter,A) | Normal or hypoplastic testes, cryptorchidism, hypospadias | Sertoli cell-only, immature seminiferous tubules | |