Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

Aim:To study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome(KFS).Methods:Blood and semen samples were collected from azoospermic patients with KFS(n=14)and acontrol group of men of proven fertility(n=13).Semen analysis was done according to World Health Organization(WHO)guidelines.Blood samples were processed for karyotyping,fluorescent in situ hybridization(FISH)andmeasurement of plasma follicle stimulating hormone(FSH)by radioimmunoassay.To determine Y chromosomemicrodeletions,polymerase chain reaction(PCR)of 16 sequence tagged sites(STS)and three genes(DFFRY,XKRYand RBM1 Y)was performed on isolated genomic DNA.Testicular fine needle aspiration cytology(FNAC)was donein selected cases.Results:Y chromosome microdeletions spanning the azoospermia factor(AZF)a and AZFb lociwere found in four of the 14 azoospermic patients with KFS.Karyotype and FISH analysis revealed that,of the fourcases showing Y chromosome microdeletion,three cases had a 47,XXY/46,XY chromosomal pattern and one casehad a 46,XY/47,XXY/48,XXXY/48,XXYY chromosomal pattern.The testicular FNAC of one sample with Ychromosome microdeletion revealed Sertoli cell-only type of morphology.However,no Y chromosome microdeletionswere observed in any of the 13 fertile men.All patients with KFS had elevated plasma FSH levels.Conclusion:Patients with KFS may harbor Y chromosome microdeletions and screening for these should be a part of their diagnosticwork-up,particularly in those considering assisted reproductive techniques.(Asian J Androl 2006 Jan;8:81-88)

Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

Aim:To study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome (KFS).Methods:Blood and semen samples were collected from azoospermic patients with KFS(n=14)and a control group of men of proven fertility(n=13).Semen analysis was done according to World Health Organization (WHO)guidelines.Blood samples were processed for karyotyping,fluorescent in situ hybridization(FISH)and measurement of plasma follicle stimulating hormone(FSH)by radioimmunoassay.To determine Y chromosome microdeletions,polymerase chain reaction(PCR)of 16 sequence tagged sites(STS)and three genes(DFFRY,XKRY and RBM1 Y)was performed on isolated genomic DNA.Testicular fine needle aspiration cytology(FNAC)was done in selected cases.Results:Y chromosome microdeletions spanning the azoospermia factor(AZF)a and AZFb loci were found in four of the 14 azoospermic patients with KFS.Karyotype and FISH analysis revealed that,of the four cases showing Y chromosome microdeletion,three cases had a 47,XXY/46,XY chromosomal pattern and one case had a 46,XY/47,XXY/48,XXXY/48,XXYY chromosomal pattern.The testicular FNAC of one sample with Y chromosome microdeletion revealed Sertoli cell-only type of morphology.However,no Y chromosome microdeletions were observed in any of the 13 fertile men.All patients with KFS had elevated plasma FSH levels.Conclusion: Patients with KFS may harbor Y chromosome microdeletions and screening for these should be a part of their diagnostic work-up,particularly in those considering assisted reproductive techniques.(Asian J Androl 2006 Jan;8:81-88)