Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by 
ichthyosiform scaling, hair abnormalities, and variable atopic features. 
Mutations in the serine protease inhibitor Kazal type 5 (SPINK5) gene leading to 
lymphoepithelial Kazal-type-related inhibitor (LEKTI) deficiency cause NS. 
Growth retardation is a classic feature of NS, but growth hormone (GH) 
deficiency with subsequent response to GH therapy is not documented in the 
literature. It is proposed that a lack of inhibition of proteases due to a 
deficiency of LEKTI in the pituitary gland leads to the overprocessing of human 
GH in NS. Herein we report three patients with NS who had growth retardation 
associated with GH deficiency and responded well to GH therapy.