Genetic analysis of the INSL3 gene in patients with maldescent of the testis
Author(s) -
HN Lim,
E Raipert-de Meyts,
NE Skakkebæk,
IA Hughes
Publication year - 2001
Publication title -
european journal of endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.897
H-Index - 148
eISSN - 1479-683X
pISSN - 0804-4643
DOI - 10.1530/eje.0.1440129
Subject(s) - biology , infertility , gene , testicle , endocrinology , medicine , mutation , testicular cancer , andrology , genetics , pregnancy , cancer
Testicular maldescent is important because it is a common congenital disorder that is associated with an increased risk of infertility and testicular cancer. Murine studies indicate that testicular maldescent can result from disruption of insulin-like factor 3 (INSL3) activity and that it may be more severe when there is concurrent undermasculinisation. Therefore, the INSL3 gene was screened for mutations and polymorphisms that may contribute to testicular maldescent in patients with undermasculinisation as well as those with isolated testicular maldescent.
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