TY - JOUR
T1 - Growth hormone insensitivity
AU - Rosenbloom, A. L.
AU - Rosenfeld, R. G.
AU - Guevara-Aguirre, J.
N1 - Funding Information:
Supported in part by grants from the March of Dimes Birth Defects Foundation, NIH grant DK-45830, the National Organization for Rare Disorders, Inc, and Pharmacia Peptide Hormones.
PY - 1997
Y1 - 1997
N2 - Growth hormone insensitivity (GHI) may be primary, caused by defects in the GH receptor, or further along the GH-insulin-like growth factor-I (IGF- I) axis, or secondary, resulting from a variety of illnesses or malnutrition affecting various steps in the pathway from the GH binding to IGF-I action. GH receptor deficiency, although rare, with only 229 cases reported, is the most common cause of primary GHI. Most patients are of Jewish, Arab, or other Mediterranean origin, the largest cohort being Catholics of Jewish origin coming from a small area in southern Ecuador, who account for one third of known cases. This large cohort has provided insight into the clinical features, growth characteristics, biochemical features, and effects of treatment with recombinant IGF-I. The Ecuadorian patients share a splice site mutation in the GH receptor gene with at least one Israeli patient of Iberian origin; 27 other mutations and a major deletion have been described in other affected patients.
AB - Growth hormone insensitivity (GHI) may be primary, caused by defects in the GH receptor, or further along the GH-insulin-like growth factor-I (IGF- I) axis, or secondary, resulting from a variety of illnesses or malnutrition affecting various steps in the pathway from the GH binding to IGF-I action. GH receptor deficiency, although rare, with only 229 cases reported, is the most common cause of primary GHI. Most patients are of Jewish, Arab, or other Mediterranean origin, the largest cohort being Catholics of Jewish origin coming from a small area in southern Ecuador, who account for one third of known cases. This large cohort has provided insight into the clinical features, growth characteristics, biochemical features, and effects of treatment with recombinant IGF-I. The Ecuadorian patients share a splice site mutation in the GH receptor gene with at least one Israeli patient of Iberian origin; 27 other mutations and a major deletion have been described in other affected patients.
UR - http://www.scopus.com/inward/record.url?scp=0031003934&partnerID=8YFLogxK
U2 - 10.1016/S0031-3955(05)70484-3
DO - 10.1016/S0031-3955(05)70484-3
M3 - Artículo
C2 - 9130928
AN - SCOPUS:0031003934
SN - 0031-3955
VL - 44
SP - 423
EP - 442
JO - Pediatric Clinics of North America
JF - Pediatric Clinics of North America
IS - 2
ER -
