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No association between mutations in the human androgen receptor GGN repeat and inter-sex conditions

Lundin, Kristina LU ; Giwercman, Aleksander LU ; Richthoff, Jonas LU ; Abrahamsson, Per-Anders LU and Giwercman, Yvonne LU (2003) In Molecular Human Reproduction 9(7). p.375-379
Abstract
The functional role of the GGN repeat in the human androgen receptor gene is unknown, although mutations in this region have been found in patients with inter-sex conditions. We have investigated the prevalence of GGN mutations in the androgen receptor in the Swedish population and their relation to male reproductive function. A physical examination and semen analysis was carried out in 223 men under medical examination before military service and in 94 men referred due to infertility and having sperm concentrations < 5x10(6)/ml. The GGN and CAG repeats in the androgen receptor gene were directly sequenced. Both populations contained two predominant alleles of 23 and 24 GGN repeats, 83.8 and 90.5% respectively. Four mutations, three in... (More)
The functional role of the GGN repeat in the human androgen receptor gene is unknown, although mutations in this region have been found in patients with inter-sex conditions. We have investigated the prevalence of GGN mutations in the androgen receptor in the Swedish population and their relation to male reproductive function. A physical examination and semen analysis was carried out in 223 men under medical examination before military service and in 94 men referred due to infertility and having sperm concentrations < 5x10(6)/ml. The GGN and CAG repeats in the androgen receptor gene were directly sequenced. Both populations contained two predominant alleles of 23 and 24 GGN repeats, 83.8 and 90.5% respectively. Four mutations, three in the conscripts and one among the infertile men, were found, resulting in three GGC to GGT substitutions and one GGT to GGC substitution. None of the men presented with genital abnormalities, but two conscripts had low ejaculate volumes ( 0.3 and 0.9 ml). All men carrying a mutation also had GGN lengths &GE; 24. Three subjects with GGN > 24, with no mutations and with normal seminal volumes, were also found. Our findings indicate that point mutations in the GGN repeat are frequently found in the general male population ( 1.3%; 95% CI: 0.3 - 3.9%), but are usually not associated with profound changes in the male phenotype. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
polymorphism, male reproduction, androgen insensitivity syndrome, androgen receptor
in
Molecular Human Reproduction
volume
9
issue
7
pages
375 - 379
publisher
Oxford University Press
external identifiers
  • wos:000183952000001
  • scopus:0038487392
ISSN
1460-2407
DOI
language
English
LU publication?
yes
id
719db54a-f5ea-458c-9e20-4eecaa48ae93 (old id 900218)
alternative location
http://molehr.oxfordjournals.org/cgi/content/abstract/9/7/375
date added to LUP
2008-01-14 21:12:34
date last changed
2018-05-29 11:16:28
@article{719db54a-f5ea-458c-9e20-4eecaa48ae93,
  abstract     = {The functional role of the GGN repeat in the human androgen receptor gene is unknown, although mutations in this region have been found in patients with inter-sex conditions. We have investigated the prevalence of GGN mutations in the androgen receptor in the Swedish population and their relation to male reproductive function. A physical examination and semen analysis was carried out in 223 men under medical examination before military service and in 94 men referred due to infertility and having sperm concentrations &lt; 5x10(6)/ml. The GGN and CAG repeats in the androgen receptor gene were directly sequenced. Both populations contained two predominant alleles of 23 and 24 GGN repeats, 83.8 and 90.5% respectively. Four mutations, three in the conscripts and one among the infertile men, were found, resulting in three GGC to GGT substitutions and one GGT to GGC substitution. None of the men presented with genital abnormalities, but two conscripts had low ejaculate volumes ( 0.3 and 0.9 ml). All men carrying a mutation also had GGN lengths &amp;GE; 24. Three subjects with GGN &gt; 24, with no mutations and with normal seminal volumes, were also found. Our findings indicate that point mutations in the GGN repeat are frequently found in the general male population ( 1.3%; 95% CI: 0.3 - 3.9%), but are usually not associated with profound changes in the male phenotype.},
  author       = {Lundin, Kristina and Giwercman, Aleksander and Richthoff, Jonas and Abrahamsson, Per-Anders and Giwercman, Yvonne},
  issn         = {1460-2407},
  keyword      = {polymorphism,male reproduction,androgen insensitivity syndrome,androgen receptor},
  language     = {eng},
  number       = {7},
  pages        = {375--379},
  publisher    = {Oxford University Press},
  series       = {Molecular Human Reproduction},
  title        = {No association between mutations in the human androgen receptor GGN repeat and inter-sex conditions},
  url          = {http://dx.doi.org/},
  volume       = {9},
  year         = {2003},
}