PREOPERATIVE SCREENING FOR GENETIC ABNORMALITIES IN MEN WITH NONOBSTRUCTIVE AZOOSPERMIA BEFORE TESTICULAR SPERM EXTRACTION
1998; Lippincott Williams & Wilkins; Volume: 160; Issue: 6 Part 1 Linguagem: Inglês
10.1016/s0022-5347(01)62244-4
ISSN1527-3792
AutoresGerta Rücker, Anna Mielnik, Peggy King, Marc Goldstein, Peter N. Schlegel,
Tópico(s)Sperm and Testicular Function
ResumoNo AccessJournal of UrologyClinical Urology: Original Articles1 Dec 1998PREOPERATIVE SCREENING FOR GENETIC ABNORMALITIES IN MEN WITH NONOBSTRUCTIVE AZOOSPERMIA BEFORE TESTICULAR SPERM EXTRACTION G. BINO RUCKER, ANNA MIELNIK, PEGGY KING, MARC GOLDSTEIN, and PETER N. SCHLEGEL G. BINO RUCKERG. BINO RUCKER , ANNA MIELNIKANNA MIELNIK , PEGGY KINGPEGGY KING , MARC GOLDSTEINMARC GOLDSTEIN , and PETER N. SCHLEGELPETER N. SCHLEGEL View All Author Informationhttps://doi.org/10.1016/S0022-5347(01)62244-4AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: Men with nonobstructive azoospermia may be treated with testicular sperm extraction and assisted reproduction. However, in men with severely impaired spermatogenesis genetic anomalies may be a cause of low sperm production. We present the results of genetic screening of men with nonobstructive azoospermia who are testicular sperm extraction candidates. Materials and Methods: Genetic evaluation was performed in a sequential series of 190 men with nonobstructive azoospermia who were candidates for testicular sperm extraction, including standard peripheral karyotypic analysis and detailed polymerase chain reaction based evaluation of the Y chromosome. All men found to harbor genetic defects were referred for genetic counseling. Results: Of the 190 patients 33 (17%) had genetic abnormalities. Of the 101 men who underwent karyotyping 21 (21%) had cytogenetic abnormalities, including 13 with Klinefelter's syndrome. Of the 183 men who underwent Y chromosome partial deletion analysis defects were detected in 17 (9%). Five men had karyotypic anomalies as well as evidence of partial Y chromosome deletions on polymerase chain reaction based analysis. Genetic counseling was done in 31 men with defects before testicular sperm extraction. Knowledge of the specific genetic defect resulted in a change of clinical management in 7 of the 33 couples (21%) in which the man had a genetic abnormality. Conclusions: These results indicate that preoperative genetic screening is important in men with nonobstructive azoospermia who are candidates for testicular sperm extraction with intracytoplasmic sperm injection. Genetic testing provides men with reassuring etiological information regarding the infertile condition as well as a means to assess the risk of passing infertility traits to male offspring. It allows specific preimplantation genetic testing of embryos during assisted reproduction to minimize the risk of transmitting genetic defects to offspring. References 1 : Clinical review 87: in vitro fertilization for male factor infertility. J. Clin. Endocr. Metab.1997; 82: 709. Google Scholar 2 : Motile sperm in human testis biopsy specimens. 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Google Scholar From the James Buchanan Brady Foundation, Department of Urology, New York Hospital-Cornell Medical Center and The Population Council, New York, New York© 1998 by American Urological Association, Inc.FiguresReferencesRelatedDetailsCited byStahl P, Mielnik A, Margreiter M, Marean M, Schlegel P and Paduch D (2018) Diagnosis of the gr/gr Y Chromosome Microdeletion Does Not Help in the Treatment of Infertile American MenJournal of Urology, VOL. 185, NO. 1, (233-237), Online publication date: 1-Jan-2011.Hung A, King P and Schlegel P (2018) Uniform Testicular Maturation Arrest: A Unique Subset of Men With Nonobstructive AzoospermiaJournal of Urology, VOL. 178, NO. 2, (608-612), Online publication date: 1-Aug-2007.MADURO M and LAMB D (2018) Understanding New Genetics of Male InfertilityJournal of Urology, VOL. 168, NO. 5, (2197-2205), Online publication date: 1-Nov-2002.PAVLOVICH C, KING P, GOLDSTEIN M and SCHLEGEL P (2018) EVIDENCE OF A TREATABLE ENDOCRINOPATHY IN INFERTILE MENJournal of Urology, VOL. 165, NO. 3, (837-841), Online publication date: 1-Mar-2001. Volume 160Issue 6 Part 1December 1998Page: 2068-2071 Advertisement Copyright & Permissions© 1998 by American Urological Association, Inc.MetricsAuthor Information G. BINO RUCKER More articles by this author ANNA MIELNIK More articles by this author PEGGY KING More articles by this author MARC GOLDSTEIN More articles by this author PETER N. SCHLEGEL More articles by this author Expand All Advertisement PDF downloadLoading ...
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