| Role of genetics in azoospermia. | |
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MedLine Citation:
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PMID: 21195467 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To review established genetic causes of azoospermia, the most severe form of male infertility, and help clinicians, scientists, and infertile couples considering assisted reproductive technologies (ART) to understand the complexity of the disorder and to maximize the chances of having a healthy infant through proper counseling and treatment. METHOD: An initial literature search was performed on PubMed using the key words "azoospermia" "oligospermia," and "genetics." The results were limited to the studies on humans and written in English, which were written within last 10 years. Although preliminary query results showed more than 900 articles, further queries using key words, such as "Y chromosome," "monogenics," "aneuploidy," "mitochondrial DNA," and "epigenetics," along with "azoospermia," narrowed the results to 30 papers, which were included in the present study. RESULTS: Genetic defects causing azoospermia were categorized into two large categories: chromosomal and nonchromosomal. Chromosomal defects were further categorized into (1) structural abnormalities, such as Y chromosome micro/macrodeletions, chromosomal inversions, and translocations; and (2) numerical abnormalities, also known as aneuploidy. Nonchromosomal defects included sperm mitochondrial genome defects and epigenetic alterations of genome. CONCLUSIONS: As a result of advancements in ART, understanding the potential implications of genetic disorders for infertile couples is critical. Analysis of a potential genetic role in azoospermia holds promise to expand our knowledge to evaluate male infertility and to guide treatments. |
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Authors:
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Joo Yeon Lee; Rima Dada; Edmund Sabanegh; Angelo Carpi; Ashok Agarwal |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2010-12-31 |
Journal Detail:
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Title: Urology Volume: 77 ISSN: 1527-9995 ISO Abbreviation: Urology Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-03-07 Completed Date: 2011-05-11 Revised Date: 2012-01-12 |
Medline Journal Info:
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Nlm Unique ID: 0366151 Medline TA: Urology Country: United States |
Other Details:
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Languages: eng Pagination: 598-601 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Elsevier Inc. All rights reserved. |
Affiliation:
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Center for Reproductive Medicine, Cleveland Clinic, Cleveland, OH 44195, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Azoospermia
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diagnosis,
etiology,
genetics*,
therapy Chromosome Aberrations Epigenesis, Genetic Humans Infertility, Male / genetics, therapy Male |
| Comments/Corrections | |
Comment In:
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Urology. 2011 Dec;78(6):1445; author reply 1445-6
[PMID:
22137717
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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