Published online Dec 26, 2020. doi: 10.12998/wjcc.v8.i24.6380
Peer-review started: August 6, 2020
First decision: September 13, 2020
Revised: September 28, 2020
Accepted: October 13, 2020
Article in press: October 13, 2020
Published online: December 26, 2020
Processing time: 135 Days and 7.6 Hours
45,X/46,XY mosaicism is a rare chromosomal abnormality with a wide range of phenotypes in both males and females, from normal individuals with different degrees of genital ambiguity to those who show signs of Turner’s syndrome. More rarely, cases of 45,X/46,XY mosaicism with a normal-appearing male phenotype are not found until a chromosome test is performed to investigate the cause of male infertility.
In this study, a 29-year-old male patient with complete azoospermia is reported. Chromosomal analyses of his lymphocytes revealed the karyotype 45,X[93%]/46,X,+mar(Y)[7%]. In addition, Y chromosome-specific markers, such as SRY, ZFY, AZFa, AZFb and AZFc, were not observed in his blood DNA according to multiplex polymerase chain reaction test. A literature review identified several 45,X/46,XY cases with a normal-appearing male phenotype, most of whom were diagnosed during infertility investigation. However, the present case is the first SRY-negative 45,X/46,XY male case diagnosed during a premarital medical examination.
This finding further suggests that sex determination is a complex process regulated by multiple genetic and environmental factors.
Core Tip: A rare chromosomal abnormality is 45,X/46,XY mosaicism. Here, we describe the diagnosis of a rare case of a 45,X/46,XY SRY-negative man with complete virilization and infertility as the main anomaly.