Short stature due to GHSR deficiency
Short stature due to GHSR deficiency
Definition
Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.
Also known as ghrelin receptor deficiency, short stature due to growth hormone secretagogue receptor deficiency — per MONDO