|
Laron Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Laron syndrome (LS), or primary growth hormone resistance, is a prototypical congenital insulin-like growth factor 1 (IGF1) deficiency.
|
31208077 |
2019 |
|
Laron Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Laron syndrome (LS) is a genetic type of dwarfism that results from mutation of the growth hormone receptor (<i>GHR</i>) gene, and is the best characterized entity under the spectrum of the congenital IGF1 deficiencies.
|
31320996 |
2019 |
|
Laron Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
While elevated IGF1 is correlated with increased cancer incidence, epidemiological studies revealed that patients with LS do not develop tumors.
|
29339473 |
2018 |
|
Laron Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Conclusions Sequential measurements of serum IGF-I, glucose and potassium in patients with Laron syndrome may aid in optimizing and individualizing rhIGF-I treatment.
|
29995632 |
2018 |
|
Laron Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The only therapeutic treatment for Laron syndrome is recombinant insulin-like growth factor I (IGF-I), which has been shown to have various side effects.
|
29482569 |
2018 |
|
Laron Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The present study was aimed at evaluating the hypothesis that IGF binding proteins (IGFBPs) are differentially expressed in LS, most probably as a result of low circulating levels of IGF-1.
|
29208357 |
2018 |
|
Laron Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels.
|
28743110 |
2017 |
|
Laron Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Growth hormone receptor deficiency (GHRD) results in short stature, enhanced insulin sensitivity, and low circulating levels of insulin and insulin-like growth factor 1 (IGF-1).
|
28073935 |
2017 |
|
Laron Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Upon admission to our facility, her phenotype led to a suspicion of LS; accordingly, serum levels of IGF-1 and IGF binding protein 3 were analyzed and a GH stimulation test was performed.
|
28502327 |
2017 |
|
Laron Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
To identify IGF1-dependent genes and signaling pathways associated with cancer protection in LS, we conducted a genome-wide analysis using immortalized lymphoblastoid cells derived from LS patients and healthy controls of the same gender, age range, and ethnic origin.
|
27090428 |
2016 |
|
Laron Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The treatment of LS is recombinant IGF-1, which stimulates the linear growth but increases the degree of obesity.
|
26401581 |
2015 |
|
Laron Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
It combines with insulin-like growth factor-I (IGF-I) to form a complex (IGF-I/IGFBP-3) that can treat growth hormone insensitivity syndrome (GHIS) and reduce insulin requirement in patients with diabetes.
|
24143239 |
2013 |
|
Laron Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings are consistent with clinical data showing that IGF-I replacement therapy in patients with Laron syndrome does not achieve full skeletal growth.
|
23456957 |
2013 |
|
Laron Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recombinant human IGF-I is an effective treatment of severe primary IGF deficiency, which is typical of patients with GH receptor defects (Laron syndrome).
|
22682630 |
2012 |
|
Laron Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Growth hormone insensitivity syndrome (GHIS), a genetic disease characterized by growth retardation combined with high serum concentration of growth hormone (GH) and low insulin-like growth factor 1 (IGF-1) levels, can be caused by mutations in the GH receptor (GHR) gene.
|
22751808 |
2012 |
|
Laron Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Insulin-like growth factor-I and insulin-like growth factor binding protein-3 cotreatment versus insulin-like growth factor-I alone in two brothers with growth hormone insensitivity syndrome: effects on insulin sensitivity, body composition and linear growth.
|
21968387 |
2011 |
|
Laron Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Mutations or deletions in the growth hormone receptor cause an autosomal disorder called Laron-type dwarfism (LS) characterized by high circulating levels of serum GH and low levels of insulin like growth factor-1 (IGF-1).
|
20583548 |
2010 |
|
Laron Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The absence of convincing evidence of GH insensitivity in a substantial number of children with ISS, the limited ability of endocrine IGF-I to restore normal growth in those with unequivocal GH unresponsiveness, the suppression of endogenous GH (and thereby, local GH effects on growth) that occurs with IGF-I administration, the risk profile, and the absence of data on efficacy in other than proven severe GH insensitivity, led the Drug and Therapeutics Committee of the Lawson Wilkins Pediatric Endocrine Society to conclude that rhIGF-I use is only justified in conditions approved by the FDA and that other growth promotional use should only be investigational.
|
18556960 |
2008 |
|
Laron Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Growth hormone (GH) insensitivity syndrome (Laron syndrome) is known to be caused by genetic disorders of the GH-IGF-1 axis.
|
17728167 |
2008 |
|
Laron Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied 11 untreated adult patients with LS (5M, 6F), five girls with LS treated by IGF-I and five adult patients with GH gene deletion (3M, 3F), four previously treated by hGH in childhood.
|
18462969 |
2008 |
|
Laron Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
There are currently four known genetic causes of GH insensitivity/primary IGF deficiency: GH receptor deficiency (also known as Laron syndrome or GH insensitivity syndrome), IGF-1 deficiency, signal transducer and activator of transcription 5b (STAT5b) deficiency and acid labile subunit (ALS) deficiency.
|
17986822 |
2007 |
|
Laron Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Patients present with short stature associated with high GH and low IGF-I levels and may have midfacial hypoplasia (typical Laron syndrome facial features).
|
17148568 |
2007 |
|
Laron Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
GH-dependent IGF-I and IGFBP-3 secretion is not affected by heterozygosity for the E180 splice mutation that causes GHRD/Laron syndrome in the Ecuadorian population.
|
17350302 |
2007 |
|
Laron Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Classic Laron Syndrome (LS) is a recessive disease of insulin-like growth factor I (IGF-I) deficiency and primary growth hormone insensitivity, clinically characterized by dwarfism and marked obesity.
|
17320443 |
2007 |
|
Laron Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Primary GH insensitivity (GHI) or Laron syndrome, caused by mutations of the GH receptor (GHR) gene, has a clinical phenotype of postnatal growth failure associated with normal elevated serum concentrations of GH and low serum levels of IGF-I.
|
17405847 |
2007 |