scholarly journals Growth hormone insensitivity syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Insensitivity

Three novel Growth Hormone Receptor (GHR) splicing mutations causing a spectrum of Growth Hormone Insensitivity

2019 ◽  
Author(s):  
Emily Cottrell ◽  
Avinaash Maharaj ◽  
Tasneem Ladha ◽  
Sumana Chatterjee ◽  
Anna Grandone ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Splicing Mutations ◽  
Growth Hormone Insensitivity

Growth hormone insensitivity syndromes

2007 ◽  
Author(s):  
Cecilia Camacho-Hübner ◽  
Martin Savage
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Insensitivity

Signal transduction defects in growth hormone insensitivity

1999 ◽  
Vol 88 (s428) ◽  
pp. 174-178 ◽  
Author(s):  
PE Clayton ◽  
JS Freeth ◽  
AJ Whatmore ◽  
RM Ayling ◽  
MR Norman ◽  
...  
Keyword(s):  
Signal Transduction ◽  
Growth Hormone ◽  
Growth Hormone Insensitivity

scholarly journals Significance of Direct Confirmation of Growth Hormone Insensitivity for the Diagnosis of Primary IGF-I Deficiency

2020 ◽  
Vol 9 (1) ◽  
pp. 240
Author(s):  
Joanna Smyczyńska ◽  
Urszula Smyczyńska ◽  
Maciej Hilczer ◽  
Renata Stawerska ◽  
Andrzej Lewiński
Keyword(s):  
Growth Hormone ◽  
Final Height ◽  
Standard Deviation Score ◽  
Height Velocity ◽  
Gh Therapy ◽  
Significant Difference ◽  
Igf I ◽  
Growth Hormone Insensitivity ◽  
Stimulation Tests ◽  
Direct Confirmation

Primary insulin-like growth factor-I (IGF-I) deficiency is a synonym of growth hormone (GH) insensitivity (GHI), however the necessity of direct confirmation of GH resistance by IGF-I generation test (IGF-GT) is discussed. GHI may disturb intrauterine growth, nevertheless short children born small for gestational age (SGA) are treated with GH. We tested the hypothesis that children with appropriate birth size (AGA), height standard deviation score (SDS) <−3.0, GH peak in stimulation tests (stimGH) ≥10.0 µg/L, IGF-I <2.5 centile, and excluded GHI may benefit during GH therapy. The analysis comprised 21 AGA children compared with 6 SGA and 20 GH-deficient ones, with height SDS and IGF-I as in the studied group. All patients were treated with GH up to final height (FH). Height velocity, IGF-I, and IGF binding protein-3 (IGFBP-3) concentrations before and during first year of treatment were assessed. Effectiveness of therapy was better in GHD than in IGF-I deficiency (IGFD), with no significant difference between SGA and AGA groups. All but two AGA children responded well to GH. Pretreatment IGF-I and increase of height velocity (HV) during therapy but not the result of IGF-GT correlated with FH. As most AGA children with apparent severe IGFD benefit during GH therapy, direct confirmation of GHI seems necessary to diagnose true primary IGFD in them.

A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI)

2020 ◽  
Vol 50 ◽  
pp. 61-70 ◽  
Author(s):  
Laura Ramírez ◽  
Nora Sanguineti ◽  
Paula Scaglia ◽  
Ana Keselman ◽  
María Gabriela Ballerini ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Growth Hormone Insensitivity
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