Netherton Syndrome Associated With Growth Hormone Deficiency

Netherton syndrome (NS) was a rare autosomal recessive disorder characterized by ichthyosiform scaling, hair abnormalities, and variable atopic features, caused by mutations in the SPINK5 gene leading to LEKTI deficiency. Growth retardation was a classic feature of NS, but growth hormone (GH) deficiency and its response to GH therapy had not been documented in the literature. The study reported three patients with NS who experienced growth retardation associated with GH deficiency and responded well to GH therapy, suggesting that the lack of inhibition of proteases due to LEKTI deficiency in the pituitary gland led to the overprocessing of human GH in NS.