摘要
BACKGROUND 45,X/46,XY mosaicism is a rare chromosomal abnormality with a wide range ofphenotypes in both males and females, from normal individuals with differentdegrees 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 malephenotype are not found until a chromosome test is performed to investigate thecause of male infertility.CASE SUMMARY 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 tomultiplex polymerase chain reaction test. A literature review identified several45,X/46,XY cases with a normal-appearing male phenotype, most of whom werediagnosed during infertility investigation. However, the present case is the firstSRY-negative 45,X/46,XY male case diagnosed during a premarital medicalexamination.CONCLUSION This finding further suggests that sex determination is a complex processregulated by multiple genetic and environmental factors.
