No congenital malformations were detected by echocardiography and ultrasonography of the kidneys of the 11 men with a 45,X mosaic or non-mosaic cell line. In addition, Y chromosome microdeletions were found in 34 men with a structural normal Y chromosome. Seven men had a karyotype with a structural abnormal Y chromosome in a non-mosaic form. The AZF region, or part of it, was deleted in eight of the nine men with a structural abnormal Y-chromosome. Two had a pure 45,X karyotype and nine had a 45,X/46,XY mosaic karyotype. ResultsĮleven of 865 azoospermic men (1.3%) collected from 1997 to 2022 were found to have a karyotype including a 45,X cell line. This study aimed to determine the prevalence of loss of Y chromosome material within the spectrum ranging from small microdeletions in the azoospermia factor region (AZF) to complete loss of the Y chromosome in azoospermic men. Structural abnormalities as well as minor variations of the Y chromosome may cause disorders of sex differentiation or, more frequently, azoospermia.
