Address of Corresponding Author

Horm Res 2006;65:76-82 (DOI: 10.1159/000091033)

  Key Words

• Growth hormone deficiency
• Gene mutation
• GH-1 gene

  Abstract

Background: Autosomal-dominant isolated GH deficiency (IGHD) is a rare disorder that is commonly believed to be due to heterozygous mutations in the GH-1 gene (GH-1). These mutations cause the production of a protein that affects the release of the product of the normal allele. Rarely, heterozygous mutations in the gene encoding for HESX-1 gene (HESX-1) may cause autosomal-dominant IGHD, with penetrance that has been shown to be variable in both humans and mice. Subjects and Methods: We have sequenced the whole GH-1 in the index cases of 30 families with autosomal-dominant IGHD. In all the families other possible causes of GH deficiency and other pituitary hormones deficits were excluded. We here describe the clinical, biochemical and radiological picture of the families without GH-1 mutations. In these families, we also sequenced the HESX-1. Results: The index cases of the five families with autosomal-dominant IGHD had normal GH-1, including the intronic sequences. They had no HESX-1 mutations. Conclusion: This study shows that GH-1 mutations are absent in 5/30 (16.6%) of the families with autosomal-dominant IGHD and raises the possibility that mutations in other gene(s) may be involved in IGHD with this mode of transmission.

Copyright © 2006 S. Karger AG, Basel

  Author Contacts

Roberto Salvatori, MD
Division of Endocrinology, Department of Medicine
The Johns Hopkins University School of Medicine, 1830 East Monument street #333
Baltimore, MD 21287 (USA)
Tel. +1 410 955 3921, Fax +1 410 955 8172, E-Mail salvator@jhmi.edu

  Article Information

Received: June 27, 2005
Accepted: December 1, 2005
Published online: January 18, 2006
Number of Print Pages : 7
Number of Figures : 1, Number of Tables : 2, Number of References : 28