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- Title
Complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men.
- Authors
Fedder, J; Fagerberg, C; Jørgensen, MW; Gravholt, CH; Berglund, A; Knudsen, UB; Skakkebæk, A
- Abstract
Background: Structural abnormalities as well as minor variations of the Y chromosome may cause disorders of sex differentiation or, more frequently, azoospermia. 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. Results: Eleven of 865 azoospermic men (1.3%) collected from 1997 to 2022 were found to have a karyotype including a 45,X cell line. Two had a pure 45,X karyotype and nine had a 45,X/46,XY mosaic karyotype. The AZF region, or part of it, was deleted in eight of the nine men with a structural abnormal Y-chromosome. Seven men had a karyotype with a structural abnormal Y chromosome in a non-mosaic form. In addition, Y chromosome microdeletions were found in 34 men with a structural normal Y chromosome. 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. Conclusions: In men with azoospermia, Y chromosome loss ranging from small microdeletions to complete loss of the Y chromosome was found in 6.1% (53/865). Partial AZFb microdeletions may give a milder testicular phenotype compared to complete AZFb microdeletions.
- Subjects
Y chromosome; SEX differentiation disorders; MOSAICISM; AZOOSPERMIA; KARYOTYPES
- Publication
Basic & Clinical Andrology, 2023, Vol 33, Issue 1, p1
- ISSN
2051-4190
- Publication type
Article
- DOI
10.1186/s12610-023-00212-z