The broad spectrum of inherited growth hormone insensitivity syndrome.
Growth hormone (GH) insensitivity syndrome (GHIS) results in severe short stature and metabolic disturbances, but when this disorder is studied in more detail it is clear that there is marked clinical and biochemical heterogeneity. Many genetic defects of the GH receptor have been reported in inherited GHIS, but it now seems likely that some cases might be the result of defects of other genes or of links in the post-receptor cascade.
Johnston
L B
LB
Paediatric Endocrine Section, Department of Endocrinology, St Bartholomew's Hospital, London, UK EC1A 7BE.
Woods
K A
KA
Rose
S J
SJ
Clark
A J
AJ
Savage
M O
MO