Figure 1.

Growth charts of patients carrying heterozygous GHR variants. Ranges of short stature phenotypes and responses to therapy are shown in the growth charts of four patients with dominant negative heterozygous GHR mutations (52). Patients carrying heterozygous GHR variants are (a) P1, c.964dupG; (b) P2, c.920_921ins14; (c) P3, c.945+2T>C; and (d) P4, c.899dupC (67). The time frame of rhIGF-1, rhGH, and rhIGF-1 plus IGFBP-3 treatments are indicated on the growth curves. CDC, Centers for Disease Control and Prevention. [Reproduced from Vairamani K, Merjaneh L, Casano-Sancho P, et al. Novel dominant-negative GH receptor mutations expands the spectrum of GHI and IGF-I deficiency. J Endocr Soc 2017;1:345–358.]