Endocrine Abstracts

Our previous studies of the gene responsible for the expression of pituitary GH (GH1 gene) have identified 13 novel missense mutations in 52 children with short stature and 154 controls, which occurred more frequently in patients than controls. These mutations result in expression of variant forms of GH with a single amino acid alteration that could lead to conformational changes within the protein, possibly resulting in cleavage sites hidden in wild-type GH becoming ex...

A child with short stature having height greater than 2 standard deviations below the mean for age and bone age delay of two years but with normal growth hormone secretion tests was identified. Since there was no known clinical cause of the short stature, it was decided to sequence both alleles of the patient's GH1 gene that encodes pituitary GH to determine whether there was a genetic defect responsible for the observed phenotype (with local ethical approval). A 3.2kb fragmen...