Netherton Syndrome Associated With Growth Hormone Deficiency

Netherton syndrome (NS) is a rare genetic disorder characterized by skin scaling, hair abnormalities, and atopic features, caused by mutations in the SPINK5 gene leading to LEKTI deficiency. Growth retardation is common in NS, but growth hormone (GH) deficiency and its treatment had not been documented. The study reported three patients with NS who experienced growth retardation due to GH deficiency and showed positive responses to GH therapy. It was suggested that LEKTI deficiency in the pituitary gland might lead to excessive processing of human GH, contributing to the growth issues observed in NS patients.