Searchable abstracts of presentations at key conferences in endocrinology

ea0035oc7.2 | IGF-1 and Thyroid Basic | ECE2014

The proposed molecular mechanism underlying isolated growth hormone deficiency (IGHD) caused by C53S mutation

Sander Max , Wu Zida , Strasburger Christian J.

Background: Besson A et al. described a patient with homozygous for C53S-hGH suffering from IGHD (JCEM2005 90:2493-9). They observed reduced ability of the mutant to bind and activate GHR in vitro. C53A-hGH lacks the disulfide bond between C53 and C165, which is conserved in GH/prolactin family.Methods: Mouse pituitary AtT-20 cells, HEK-293 and CHO-K1 cells were transfected with plasmids containing C53S, C53A or C53S/C165A cDNA. hGH from cell supernatant...