|
Pituitary dwarfism
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
We describe a non-consanguineous pedigree composed by several individuals with short stature, including 2 pediatric patients with typical diagnosis of isolated growth hormone deficiency (IGHD) and 4 other siblings with severe short stature, low serum IGF-1 and IGFBP-3, but normal stimulated GH levels, suggesting growth hormone insensitivity (GHI) in the latter group.
|
31835104 |
2020 |
|
Pituitary dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
Systematic profiling of clinical missence mutation effects on the intermolecular interaction between human growth hormone and its receptor in isolated growth hormone deficiency.
|
31279174 |
2019 |
|
Pituitary dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
Growth Hormone (GH) Therapy During the Transition Period: Should We Think About Early Retesting in Patients with Idiopathic and Isolated GH Deficiency?
|
30678118 |
2019 |
|
Pituitary dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
In the multiple pituitary hormone deficiency (MPHD) group (n=50), first year GH response was significantly greater than in the isolated GH deficiency (IGHD) group (n=17) (p=0.030).
|
29353264 |
2018 |
|
Pituitary dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
We examined cancer risk and especially bone tumor risk in a population-based cohort study of 6874 patients treated with recombinant GH in France for isolated GH deficiency, short stature associated with low birth weight or length or idiopathic short stature.
|
29905027 |
2018 |
|
Pituitary dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We have previously shown that adults with isolated GH deficiency (IGHD) due to a mutation in the GH releasing hormone receptor (GHRHR) gene, have a greater chance of having periodontitis.
|
29797719 |
2018 |
|
Pituitary dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic alterations in GH1 and GHRHR genes are known to cause isolated growth hormone deficiency (IGHD).
|
28910730 |
2017 |
|
Pituitary dwarfism
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Serum insulin-like growth factor-1 and peak growth hormone (GH) levels following GH stimulation tests were significantly lower in patients with CPHD than in those with IGHD (p<0.05).
|
28332357 |
2017 |
|
Pituitary dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
A model of untreated isolated GH deficiency (IGHD), with low but measurable serum GH, may clarify this issue.
|
28456063 |
2017 |
|
Pituitary dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
Only one patient with IGHD who had an ectopic posterior pituitary without stalk interruption on MRI analysis showed a normal GH response during the retest.
|
28511077 |
2017 |
|
Pituitary dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
The current meta-analysis aims at evaluating whether the existing clinical evidence may ascertain the effects of growth hormone (GH) replacement therapy on cardiovascular risk, both in isolated GH deficiency (GHD) and in compensated panhypopituitarism including GH deficit.
|
28925898 |
2017 |
|
Pituitary dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
A model of isolated growth hormone deficiency may clarify if the lack of growth hormone is associated with increased susceptibility to infections, or with an altered responsiveness of the immune system.
|
27484773 |
2016 |
|
Pituitary dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To our knowledge, c.-223C>T is the first homozygous point mutation in the GH1 promoter that leads to short stature due to IGHD.
|
27252485 |
2016 |
|
Pituitary dwarfism
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Variation affecting the production, release and functional activity of GH leads to growth hormone deficiency (GHD), which is of two types: isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD).
|
27114065 |
2016 |
|
Pituitary dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
Growth hormone deficiency (GHD) results from variations affecting the production and release of growth hormone (GH) and is of 2 types: isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD).
|
27756091 |
2016 |
|
Pituitary dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to assess attainment of genetic height potential after long-term growth hormone (GH) treatment in GH-naïve children diagnosed with isolated growth hormone deficiency (IGHD), multiple pituitary hormone deficiency (MPHD), born small for gestational age (SGA), or idiopathic short stature (ISS) enrolled in the American Norditropin®
|
26363846 |
2015 |
|
Pituitary dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cohort specific mutations in the growth hormone (GH1) and growth hormone-releasing hormone receptor (GHRHR) genes have been reported worldwide in isolated growth hormone deficiency (IGHD) patients.
|
25153028 |
2014 |
|
Pituitary dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Endoplasmic reticulum stress and apoptosis contribute to the pathogenesis of dominantly inherited isolated GH deficiency due to GH1 gene splice site mutations.
|
23736291 |
2013 |
|
Pituitary dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Isolated growth hormone deficiency type-2 (IGHD-2), the autosomal-dominant form of GH deficiency, is mainly caused by specific splicing mutations in the human growth hormone (hGH) gene (GH-1).
|
23182825 |
2012 |
|
Pituitary dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Growth hormone (GH-1) gene deletions in children with isolated growth hormone deficiency (IGHD).
|
22016154 |
2012 |
|
Pituitary dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Isolated growth hormone deficiency in two siblings because of paternal mosaicism for a mutation in the GH1 gene.
|
21933221 |
2012 |
|
Pituitary dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations in the GH-releasing hormone receptor (GHRHR) gene (GHRHR) are a frequent cause of genetic isolated GH deficiency (IGHD).
|
21995288 |
2012 |
|
Pituitary dwarfism
|
0.200 |
Biomarker
|
disease |
BEFREE |
Correlation of fl/d3 polymorphism of growth hormone receptor with the first- and second-year response to recombinant human growth hormone therapy in pre-pubertal Greek children with idiopathic isolated growth hormone deficiency.
|
20855935 |
2011 |
|
Pituitary dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Growth hormone 1 (GH1) gene deletions occur in approximately 10-15% of patients with severe isolated, GH deficiency (GHD).
|
21232999 |
2011 |
|
Pituitary dwarfism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Two siblings with isolated GH deficiency due to loss-of-function mutation in the GHRHR gene: successful treatment with growth hormone despite late admission and severe growth retardation.
|
21274317 |
2010 |