Short stature due to partial GHR deficiency
Short stature due to partial GHR deficiency
Definition
Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.
Also known as short stature due to partial growth hormone receptor deficiency — per MONDO