Document Detail

Role of genetics in azoospermia.
MedLine Citation:
PMID:  21195467     Owner:  NLM     Status:  MEDLINE    
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.
Joo Yeon Lee; Rima Dada; Edmund Sabanegh; Angelo Carpi; Ashok Agarwal
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2010-12-31
Journal Detail:
Title:  Urology     Volume:  77     ISSN:  1527-9995     ISO Abbreviation:  Urology     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-03-07     Completed Date:  2011-05-11     Revised Date:  2012-01-12    
Medline Journal Info:
Nlm Unique ID:  0366151     Medline TA:  Urology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  598-601     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Elsevier Inc. All rights reserved.
Center for Reproductive Medicine, Cleveland Clinic, Cleveland, OH 44195, USA.
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MeSH Terms
Azoospermia / diagnosis,  etiology,  genetics*,  therapy
Chromosome Aberrations
Epigenesis, Genetic
Infertility, Male / genetics,  therapy
Comment In:
Urology. 2011 Dec;78(6):1445; author reply 1445-6   [PMID:  22137717 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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