Growth hormone insensitivity syndrome
Short stature with normal or high growth hormone but low IGF-1, including Laron syndrome (GHR), IGF1, IGFALS and IGF1R defects, and STAT5B deficiency with immune dysregulation.
What a diagnosis changes
Recombinant IGF-1 (mecasermin) can improve growth in some forms; STAT5B deficiency also needs immune and lung follow-up.
Also known as
GHIS; short stature due to a defect in growth hormone receptor or post-receptor pathway
Includes 9 related subtypes ↓Hide subtypes ↑
- growth delay due to insulin-like growth factor I resistance
- growth delay due to insulin-like growth factor type 1 deficiency
- growth hormone insensitivity syndrome with immune dysregulation
- growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
- growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Laron syndrome
- short stature due to partial GHR deficiency
- short stature due to primary acid-labile subunit deficiency
- STAT5 haploinsufficiency
