Hypospadias
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Characterization of two point mutations in the androgen receptor gene of patients with perineoscrotal hypospadia.
|
8274427 |
1993 |
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
Biomarker
|
disease |
BEFREE |
The results suggest that AR gene abnormalities do not constitute a major factor in the development of hypospadias.
|
11331662 |
2001 |
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
Biomarker
|
disease |
LHGDN |
Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene.
|
15472213 |
2004 |
Hypospadias
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Remarkably low incidence of hypospadias in Greenland despite high exposure to endocrine disrupters; possible protective effect of androgen receptor genotype.
|
16609370 |
2006 |
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
AlteredExpression
|
disease |
LHGDN |
Expression of estrogen and androgen receptors in children with hypospadias: preliminary report.
|
17453687 |
2007 |
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This epigenetic alteration of the AR gene might be involved in the pathogenesis of hypospadias.
|
21937623 |
2011 |
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
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 |
Hypospadias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Correlation of androgen receptor and SRD5A2 gene mutations with pediatric hypospadias in 46, XY DSD children.
|
27051040 |
2016 |