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: Banu Küçükemre Aydın, Firdevs Baş, Zeynep Tamay, Gürkan Kılıç, Ayşe Süleyman, Rüveyde Bundak, Nurçin Saka, Esen Özkaya, Nermin Güler, Feyza Darendeliler
• Journal: Pediatric dermatology (Pediatr Dermatol) 2014 Jan-Feb Vol. 31 Issue 1 Pg. 90-4 ISSN: 1525-1470 [Electronic] United States
• PMID: 24015757 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2013 Wiley Periodicals, Inc.

Chemical References

• Proteinase Inhibitory Proteins, Secretory
• SPINK5 protein, human
• Serine Peptidase Inhibitor Kazal-Type 5
• Human Growth Hormone

Topics

• Child
• Female
• Growth Disorders (diagnosis, genetics, therapy)
• Human Growth Hormone (deficiency, therapeutic use)
• Humans
• Netherton Syndrome (diagnosis, genetics, therapy)
• Proteinase Inhibitory Proteins, Secretory (genetics)
• Serine Peptidase Inhibitor Kazal-Type 5
• Treatment Outcome
• Twins