Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p33 | Bone, Growth Plate and Mineral Metabolism | IMPE2023

Novel Pathogenic NPR2 Variants in Short Stature Patients and the Therapeutic Response to rhGH

Chen Hong , Zhang Suping , Sun Yunteng , Chen Ruimin

Background and object: C-type natriuretic peptide (CNP) and its receptor Atrial natriuretic peptide receptor 2 (NPR2) are expressed in the hypertrophic region of the growth plate and are major regulators of endochondral ossification. CNP-NPR2 stimulates the synthesis of chondrocytes and cartilage matrix and promotes growth plate development. Heterozygous loss-of-function variants in NPR2 gene cause short stature with nonspecific skeletal abnormalities (OMIM#61...