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Screening for Deletions of the Y Chromosome Involving the DAZ (Deleted in Azoospermia) Gene in Azoospermia and Severe Oligozoospermia
MALE INFERTILITY
609
Methods We studied 200 consecutive infertile men. Each man was evaluated comprehensively for known causes of infertility, and Y-chromosome microdeletions were studied with use of the polymerase chain reaction to amplify specific regions of the chromosome. The Y chromosomes of 200 normal men were also analyzed. Results Fourteen infertile men (7 percent) and four normal men (2 percent) had microdeletions of the Y chromosome. Nine of the infertile men had azoospermia or severe oligospermia (sperm concentration, <5 million per milliliter), four had oligospermia (sperm concentration, 5 million to <20 million per milliliter), and one had normospermia (sperm concentration, 220 million per milliliter). The size and location of the deletions varied and did not correlate with the severity of spermatogenic failure. The fathers of six infertile men with microdeletions were studied; two had the same deletions as their sons, and four had no deletions. Conclusions A small proportion of men with infertility have Y-chromosome microdeletions, but the size and position of the deletions correlate poorly with the severity of spermatogenic failure, and a deletion does not preclude the presence of viable sperm and possible conception. RepMted with permission from Massachusetts Medical Society.
Screeningfor Deletions of the Y Chromosome Involving the DAZ (Deletedin Azoospermia) Gene in Azoospermia and Severe Oligozoospermia M. SIMON, J. GROMOLL, B. DWORNICZAK, C. ROLF,K. AFSHAGEN,A. KAMISCHKE, C. CARANI, D. MESCHEDE, H. M. BEHRE, J. HORSTAND E. NIESCHLAG, Institutes of Reproductive Medicine and Human Genetics of University, Munster, Germany, and University of Modena, Modena, Italy Fertil. Steril., 67: 542-547, 1997 Objective: To evaluate the occurrence and prevalence of microdeletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in patients with azoospermia or severe oligozoospermia. Design: Controlled clinical study. Setting: University infertility clinic. Patient(s): Infertile men (n = 168)with nonobstructive, idiopathic azoospermia or severe oligozoospermia and normal LH. The control group consisted of proven fathers (n = 86). Intervention(s): None. Main Outcome Measure(s): Semen analysis; polymerase chain reaction amplification of the loci sY84, sY143, sY254, and sY255; serum FSH, LH, and T; testicular volume. Result(s): Deletions involving the sY254 and sY255 DAZ loci were found in three azoospermic patients and two men with sperm concentration <1 X lo6/&. Serum FSH was elevated in four patients and was normal in one. All five patients had decreased testicular volumes compared with controls. No deletions involving the sY84 and sY143 loci were found. The four loci were amplified normally in the control group. Conclusion(s): The estimated frequency of deletions involving the DAZ locus is 3% in azoospermicseverely oligozoospermic men consulting an infertility clinic. Polymerase chain reaction amplification of the DAZ locus is useful for the diagnosis of microdeletions of the Y chromosome. Deletions involving more proximal regions of the Y chromosome seem to be rare. Azoospermic Men With Deletion of the DAZ Gene Cluster are Capable of Completing Spermatogenesis: Fertilization, Normal Embryonic Development and Pregnancy Occur When Retrieved Testicular Spermatozoa are Used for Intracytoplasdc Sperm Injection J. P. MULHALL, R. REIJO,R. ALAGAPPAN, L. BROWN, D. PAGE,R. CARSONAND R. D. OATES,Department of Urology, Boston University School of Medicine, Boston, Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, Cambridge and Reproductive Science Center, Waltham, Massachusetts Hum. Reprod., 1 2 503-508,1997 Permission to Publish Abstract Not Granted The Incidence and Possible Relevance of Y-LinkedMicrodeletions in Babies Born After Intracytoplasmic Sperm Injection and Their Infertile Fathers M. G. KENT-FIRST,S. KOL,A. MUALLEM, R. OFIR,D. MANOR,S. BLAZER,N. FIRST AND J. ITSKOVITZ-EL~MIR, Promega Corporation, Department of Meat and Animal Science, University of Wisconsin, Madison, Wisconsin and Department of Obstetrics and Gynecology, and Neonatology, Rambam Medical Center and Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Ismel Mol. Hum. Reprod., 1 2 943-950,1996 Microdeletions linked to deletion intervals 5 and 6 of the Y chromosome have been associated with male factor infertility. Members from at least two gene families lie in the region containing azoospermia factor (AZF),namely YRRM and DAZ. With the advent of intracytoplasmic sperm injection (ICSI), it is possible for men with severe male factor infertility to produce a child. The genetic consequences of such a procedure have been questioned. This report describes the first study of a population (32 couples) of infertile fathers and their sons born after ICSI. The objectives were firstly to determine the incidence and map location of
609
Methods We studied 200 consecutive infertile men. Each man was evaluated comprehensively for known causes of infertility, and Y-chromosome microdeletions were studied with use of the polymerase chain reaction to amplify specific regions of the chromosome. The Y chromosomes of 200 normal men were also analyzed. Results Fourteen infertile men (7 percent) and four normal men (2 percent) had microdeletions of the Y chromosome. Nine of the infertile men had azoospermia or severe oligospermia (sperm concentration, <5 million per milliliter), four had oligospermia (sperm concentration, 5 million to <20 million per milliliter), and one had normospermia (sperm concentration, 220 million per milliliter). The size and location of the deletions varied and did not correlate with the severity of spermatogenic failure. The fathers of six infertile men with microdeletions were studied; two had the same deletions as their sons, and four had no deletions. Conclusions A small proportion of men with infertility have Y-chromosome microdeletions, but the size and position of the deletions correlate poorly with the severity of spermatogenic failure, and a deletion does not preclude the presence of viable sperm and possible conception. RepMted with permission from Massachusetts Medical Society.
Screeningfor Deletions of the Y Chromosome Involving the DAZ (Deletedin Azoospermia) Gene in Azoospermia and Severe Oligozoospermia M. SIMON, J. GROMOLL, B. DWORNICZAK, C. ROLF,K. AFSHAGEN,A. KAMISCHKE, C. CARANI, D. MESCHEDE, H. M. BEHRE, J. HORSTAND E. NIESCHLAG, Institutes of Reproductive Medicine and Human Genetics of University, Munster, Germany, and University of Modena, Modena, Italy Fertil. Steril., 67: 542-547, 1997 Objective: To evaluate the occurrence and prevalence of microdeletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in patients with azoospermia or severe oligozoospermia. Design: Controlled clinical study. Setting: University infertility clinic. Patient(s): Infertile men (n = 168)with nonobstructive, idiopathic azoospermia or severe oligozoospermia and normal LH. The control group consisted of proven fathers (n = 86). Intervention(s): None. Main Outcome Measure(s): Semen analysis; polymerase chain reaction amplification of the loci sY84, sY143, sY254, and sY255; serum FSH, LH, and T; testicular volume. Result(s): Deletions involving the sY254 and sY255 DAZ loci were found in three azoospermic patients and two men with sperm concentration <1 X lo6/&. Serum FSH was elevated in four patients and was normal in one. All five patients had decreased testicular volumes compared with controls. No deletions involving the sY84 and sY143 loci were found. The four loci were amplified normally in the control group. Conclusion(s): The estimated frequency of deletions involving the DAZ locus is 3% in azoospermicseverely oligozoospermic men consulting an infertility clinic. Polymerase chain reaction amplification of the DAZ locus is useful for the diagnosis of microdeletions of the Y chromosome. Deletions involving more proximal regions of the Y chromosome seem to be rare. Azoospermic Men With Deletion of the DAZ Gene Cluster are Capable of Completing Spermatogenesis: Fertilization, Normal Embryonic Development and Pregnancy Occur When Retrieved Testicular Spermatozoa are Used for Intracytoplasdc Sperm Injection J. P. MULHALL, R. REIJO,R. ALAGAPPAN, L. BROWN, D. PAGE,R. CARSONAND R. D. OATES,Department of Urology, Boston University School of Medicine, Boston, Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, Cambridge and Reproductive Science Center, Waltham, Massachusetts Hum. Reprod., 1 2 503-508,1997 Permission to Publish Abstract Not Granted The Incidence and Possible Relevance of Y-LinkedMicrodeletions in Babies Born After Intracytoplasmic Sperm Injection and Their Infertile Fathers M. G. KENT-FIRST,S. KOL,A. MUALLEM, R. OFIR,D. MANOR,S. BLAZER,N. FIRST AND J. ITSKOVITZ-EL~MIR, Promega Corporation, Department of Meat and Animal Science, University of Wisconsin, Madison, Wisconsin and Department of Obstetrics and Gynecology, and Neonatology, Rambam Medical Center and Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Ismel Mol. Hum. Reprod., 1 2 943-950,1996 Microdeletions linked to deletion intervals 5 and 6 of the Y chromosome have been associated with male factor infertility. Members from at least two gene families lie in the region containing azoospermia factor (AZF),namely YRRM and DAZ. With the advent of intracytoplasmic sperm injection (ICSI), it is possible for men with severe male factor infertility to produce a child. The genetic consequences of such a procedure have been questioned. This report describes the first study of a population (32 couples) of infertile fathers and their sons born after ICSI. The objectives were firstly to determine the incidence and map location of