TY - GEN
T1 - Genetic defects of the growth-hormone-IGF axis associated with growth hormone insensitivity
AU - Woods, K.
PY - 2007
Y1 - 2007
N2 - The central feature of growth hormone (GH) insensitivity is deficiency of insulin-like growth factor-1 (IGF-1) in association with elevated GH secretion. This condition is also known as primary IGF deficiency. 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. Despite sharing the classical biochemical features of GH insensitivity, the phenotype in each of these conditions is quite distinct. This review will discuss each of these causes in turn, highlighting the insights these rare causes of growth failure afford into the functioning of the human GH-IGF-1 axis.
AB - The central feature of growth hormone (GH) insensitivity is deficiency of insulin-like growth factor-1 (IGF-1) in association with elevated GH secretion. This condition is also known as primary IGF deficiency. 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. Despite sharing the classical biochemical features of GH insensitivity, the phenotype in each of these conditions is quite distinct. This review will discuss each of these causes in turn, highlighting the insights these rare causes of growth failure afford into the functioning of the human GH-IGF-1 axis.
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U2 - 10.1159/000111053
DO - 10.1159/000111053
M3 - Conference contribution
C2 - 17986822
AN - SCOPUS:39549111526
SN - 9783805583473
T3 - Endocrine Development
SP - 6
EP - 15
BT - Congenital Endocrinopathies
A2 - Lorini, Renata
A2 - D'Annunzio, Giuseppe
A2 - Maghnie, Mohamad
A2 - Loche, Sandro
A2 - Savage, Martin
ER -