SRY-negative 45,X/46,XY adult male with complete masculinization and infertility:A case report and review of literature  

作　　者：Yan-Hua Wu Hui Bao Ying-Jian Chen Ke-Na Sun 

机构地区：[1]Department of Laboratory Medicine,The 960th Hospital of The PLA Joint Logistics Support Force,Jinan 250031,Shandong Province,China [2]Department of Medical Laboratory,Weifang Medical University,Weifang 261053,Shandong Province,China

出　　处：《World Journal of Clinical Cases》2020年第24期6380-6388,共9页世界临床病例杂志

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.

关 键 词：Azoospermia Sex chromosome MOSAICISM Y chromosomal microdeletions SRY-negative Case report 

分 类 号：R596.1[医药卫生—内科学]