Document Detail


Morphogenetic targets and genetics of undescended testis.
MedLine Citation:
PMID:  20980787     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
Although important advances in testicular physiology have been achieved, the aetiology of human cryptorchidism remains mostly unknown. Next to sex steroidal signaling pathways, morphogenetic genes are specifically involved in the testicular descent via gubernacular development. Mutations in the human genes encoding insulin-like factor 3 (INSL3) and its Leu-rich repeat-containing G protein-coupled receptor 8 (LGR8), homeobox A10 (HOXA10), zinc finger 214 (ZNF214) and 215 (ZNF215) have occasionally been identified but do not seem to be a frequent cause of cryptorchidism. On the other hand, common polymorphisms in these genes have recently been investigated as contributing risk factors for idiopathic isolated (nonsyndromic) cryptorchidism.
Authors:
Francesco Massart; G Saggese
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Publication Detail:
Type:  Journal Article     Date:  2010-11-01
Journal Detail:
Title:  Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation     Volume:  4     ISSN:  1661-5433     ISO Abbreviation:  Sex Dev     Publication Date:  2010  
Date Detail:
Created Date:  2010-10-28     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101316472     Medline TA:  Sex Dev     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  326-35     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 S. Karger AG, Basel.
Affiliation:
Pediatric Endocrine Center, Department of Procreative Medicine and Development Age, University of Pisa, Pisa, Italy. massart@med.unipi.it
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