Short stature due to partial GHR deficiency
ORPHA:314802· ICD-10 E34.3
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.
- Prevalence
- Unknown
- Inheritance
- Unknown
- Age of onset
- Childhood