Short stature in a patient with cystic fibrosis caused by a 6.7-kb human growth hormone gene deletion.
A recent longitudinal study in children with cystic fibrosis (CF) challenged the common idea that CF is causing short stature. The data, however, showed clearly that short stature cannot be explained by CF alone after the first year of life. We report on a girl suffering from CF and short stature in whom DNA analysis using polymerase chain reaction and Southern blot techniques of the human growth hormone (hGH) gene cluster revealed a 6.7-kb gene deletion encompassing the hGH-1 gene. Anti-hGH antibodies of polyclonal origin developed, leading to a growth arrest after only 2 months of hGH replacement. In addition, a family study was performed, and the haplotypes of the CF gene and hGH gene cluster were analyzed.
Department of Paediatrics, University of Bern, Switzerland.
P E
PE
Mullis
S
S
Liechti-Gallati
L
L
Di Silvio
C G
CG
Brook
A F
AF
Paes-Alves
D015139:Blotting, Southern; D001827:Body Height; D002648:Child; D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D013006:Growth Hormone / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D013006:Growth Hormone