Complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men

TY - JOUR

T1 - Complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men

AU - Fedder, J

AU - Fagerberg, C

AU - Jørgensen, M W

AU - Gravholt, C H

AU - Berglund, A

AU - Knudsen, U B

AU - Skakkebæk, A

PY - 2023/12/14

Y1 - 2023/12/14

N2 - 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.

AB - 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.

KW - 45,X/46,XY mosaicism

KW - Azoospermia

KW - Y chromosome

KW - Y chromosome loss

KW - Y microdeletion

UR - http://www.scopus.com/inward/record.url?scp=85179922339&partnerID=8YFLogxK

U2 - 10.1186/s12610-023-00212-z

DO - 10.1186/s12610-023-00212-z

M3 - Journal article

C2 - 38093178

SN - 2051-4190

VL - 33

JO - Basic and Clinical Andrology

JF - Basic and Clinical Andrology

IS - 1

M1 - 37

ER -