Premium
Netherton Syndrome Associated with Growth Hormone Deficiency
Author(s) -
Aydın Banu Küçükemre,
Baş Firdevs,
Tamay Zeynep,
Kılıç Gürkan,
Süleyman Ayşe,
Bundak Rüveyde,
Saka Nurçin,
Özkaya Esen,
Güler Nermin,
Darendeliler Feyza
Publication year - 2013
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12220
Subject(s) - medicine , endocrinology , proteases , serine protease , growth hormone deficiency , growth hormone , hypopituitarism , protease , hormone , biology , enzyme , biochemistry
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 ( SPINK 5 ) 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.