An infertile 45,X male carrying an unbalanced(Y,13) translocation:A clinical cytogenetic and molecular study / 医学研究生学报

ABSTRACT

Objective: To report a case of azoospermia with a karyotype of 45,X,der(Y)t(Y;13)(q11.2;q12),-13,accompanied with slight bilateral gynecomastia and multiple nodules.Methods: The karyotype was identified by karyotyping and FISH,and the breakpoints of the Y chromosome and the copy number of the BRCA2 gene in 13q12 determined by PCR-STS and DNA polymorphic analysis.The testis and nodule tissues of the patient were obtained for biopsy.Results: FISH confirmed SRY and centromere of the Y chromosome on the questionable 13 chromosome and the karyotype to be 45,X,der(Y)t(Y;13)(q11.1;q12),-13.ish der(Y)(SRY+,DYZ3+,wcp13+).PCR-STS showed the deletion of regions AZFa,b and C,with a breakpoint located inYq11.1 below sY82.No deletion of the BRCA2 gene was observed.The patient was diagnosed with Sertoli cell-only syndrome by testicular biopsy and with angiolipomata by pathological examination of the nodule tissue.Conclusion: The patient's phenotype of complete masculinization could be attributed to presence of the SRY gene,and his azoospermia with small testis to the absence of a fragment from Yq11.1 to Yqter.However,the molecular mechanism of angiolipoma remains unknown.