title: Netherton syndrome associated with growth hormone deficiency.
abstract: 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.
authors.affiliation: Department of Pediatrics, Pediatric Endocrinology Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Banu Küçükemre
authors.initials: BK
authors.lastname: Aydın
authors.forename: Firdevs
authors.initials: F
authors.lastname: Baş
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tamay
authors.forename: Gürkan
authors.initials: G
authors.lastname: Kılıç
authors.forename: Ayşe
authors.initials: A
authors.lastname: Süleyman
authors.forename: Rüveyde
authors.initials: R
authors.lastname: Bundak
authors.forename: Nurçin
authors.initials: N
authors.lastname: Saka
authors.forename: Esen
authors.initials: E
authors.lastname: Özkaya
authors.forename: Nermin
authors.initials: N
authors.lastname: Güler
authors.forename: Feyza
authors.initials: F
authors.lastname: Darendeliler
mesh_terms: D002648:Child; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D019382:Human Growth Hormone / Q000172:deficiency* / Q000627:therapeutic use*; D006801:Humans; D056770:Netherton Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics*; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D016896:Treatment Outcome; D014427:Twins
chemical_list: D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D019382:Human Growth Hormone