Growth hormone deficiency in the Rothmund-Thomson syndrome.
We describe the first proven occurrence of growth hormone deficiency in an individual with the Rothmund-Thomson syndrome. This was suspected because of the patient's severely retarded growth and bone age and her failure to respond normally to growth hormone stimulation testing with l-DOPA, arginine, and growth hormone releasing factor. In addition, we have briefly reviewed other genetic and malformation syndromes that have been found associated with growth hormone deficiency. We recommend that growth hormone deficiency be considered in these syndromes, especially when the growth failure is more marked than expected.
Kaufmann
S
S
Jones
M
M
Culler
F L
FL
Jones
K L
KL
D001120:Arginine; D002648:Child; D004392:Dwarfism / Q000209:etiology / Q000235:genetics; D005260:Female; D013006:Growth Hormone / Q000172:deficiency*; D013007:Growth Hormone-Releasing Hormone; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000097:blood; D007980:Levodopa; D011038:Rothmund-Thomson Syndrome / Q000235:genetics / Q000378:metabolism*; D012871:Skin Diseases / Q000378:metabolism*
D007980:Levodopa; D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone; D013007:Growth Hormone-Releasing Hormone; D001120:Arginine