|
Penile hypospadias
|
0.100 |
Biomarker
|
disease |
BEFREE |
These rats in one group received the androgen receptor antagonist flutamide (25 mg/kg/day) from gestation days 11-17, to establish a rat model of hypospadias for further study of the molecular mechanisms of the hypospadias etiology.
|
30380353 |
2020 |
|
Penile hypospadias
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
No differences in AR expression were found in hypospadias or buried penis cases as compared to controls matched for age at time of surgery.
|
31810878 |
2019 |
|
Penile hypospadias
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes of penile development (e.g., HOX, FGF, Shh) and testicular determination (e.g., WT1, SRY), luteinizing hormone receptor, and androgen receptor have also been proposed to be implicated in hypospadias.
|
30238986 |
2019 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This is the third case report with hypospadias in association with CAG repeat expansions in the AR gene in the full range known to cause SBMA later in life.
|
26872663 |
2016 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Correlation of androgen receptor and SRD5A2 gene mutations with pediatric hypospadias in 46, XY DSD children.
|
27051040 |
2016 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The results showed that patients with isolated hypospadias had longer CAG repeats in their androgen receptor gene sequence (weighted mean difference = 1.36, 95% confidence interval = 0.60-2.13; P = 0.0005).
|
25867301 |
2015 |
|
Penile hypospadias
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The correlation between the level of androgen receptor mRNA expression and the penile size was almost statistically significant only in hypospadias patients (r=0.47; p=0.053).
|
23386417 |
2013 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To investigate the prevalence of genetic mutations in steroid 5α-reductase-2 (SRD5A2), androgen receptor (AR) and steroidogenic factor-1 (SF-1) in Chinese children with hypospadias, and to also explore the possible underlying molecular mechanisms of this disease.
|
23729601 |
2013 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we investigated 13 haplotype tagging single nucleotide polymorphisms (SNPs) covering the steroid-5-alpha reductase (SRD5A2) and androgen receptor(AR) gene region, respectively, in a cohort consisting of 260 individuals with mild hypospadias and 77 with severe disease, in addition to 471 healthy male controls.
|
23571770 |
2013 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we aimed at investigating the role of the CAG repeat length in the AR gene in hypospadias cases as compared to the controls.
|
23167717 |
2012 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Boys with isolated hypospadias have longer CAG alleles in their AR, which may be related with the development of this congenital malformation.
|
22570967 |
2012 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This epigenetic alteration of the AR gene might be involved in the pathogenesis of hypospadias.
|
21937623 |
2011 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The genes of penile development (HOX, FGF, Shh) and testicular determination (WT1, SRY) and those regulating the synthesis [luteinizing hormone (LH) receptor] and action of androgen (5alpha reductase, androgen receptor) can cause hypospadias if altered.
|
18637150 |
2009 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We identified patients from the Cambridge Disorders of Sex Development Database with the AR substitutions: Phe754Ser with microphallus without hypospadias and Asp690Val with complete AIS.
|
19178528 |
2009 |
|
Penile hypospadias
|
0.100 |
Biomarker
|
disease |
BEFREE |
Co-regulators of the androgen receptor start being acknowledged as possible candidates for hormone-resistance instances, which could account for hypospadias.
|
17343741 |
2007 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This finding indicates that AR genotype could contribute to a genetic predisposition in Greenlanders, who despite one of the worlds highest body burden of POPs, seem to be protected from hypospadias.
|
16609370 |
2006 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Endogenous endocrine abnormalities identified so far include testosterone biosynthesis defects, 5alpha-reductase type 2 mutations, and androgen receptor mutations (the rarest cause, even in cases of severe hypospadias).
|
15086020 |
2004 |
|
Penile hypospadias
|
0.100 |
Biomarker
|
disease |
BEFREE |
The results suggest that AR gene abnormalities do not constitute a major factor in the development of hypospadias.
|
11331662 |
2001 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although androgens are clearly critical for penile development, defects in androgen metabolism and/or the androgen receptor explain only a small subset of cases of hypospadias.
|
10688029 |
2000 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Isolated distal shaft hypospadias is associated with mutations of the androgen receptor gene but these mutations appear to be a rare cause of hypospadias.
|
8683794 |
1996 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To examine the possibility that androgen receptor defects are a common cause of such deficiencies, we have determined the coding sequence of the androgen receptor gene in nine patients with severe hypospadias.
|
7673412 |
1995 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we have searched for the existence of androgen receptor gene mutations carried by some patients with hypospadias.
|
8033918 |
1994 |
|
Penile hypospadias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To test this hypothesis we measured estrogen and androgen formation in two brothers with perineoscrotal hypospadias and severe gynecomastia (the Reifenstein phenotype) due to a mutation that impairs androgen receptor function.
|
2370295 |
1990 |