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Table of Contents
Vol. 68, No. 5, 2007
Issue release date: October 2007
Section title: Original Paper
Horm Res 2007;68:218–224
(DOI:10.1159/000101334)

Growth Hormone Insensitivity and Severe Short Stature in Siblings: A Novel Mutation at the Exon 13-Intron 13 Junction of the STAT5b Gene

Hwa V.a · Camacho-Hübner C.b · Little B.M.a · David A.b · Metherell L.A.b · El-Khatib N.c · Savage M.O.b · Rosenfeld R.G.a, d, e
aDepartment of Pediatrics, Oregon Health and Sciences University, Portland, Oreg., USA; bDepartment of Endocrinology, William Harvey Research Institute, Queen Mary, University of London, London, UK; cAhmadi Hospital, Ahmadi, Kuwait; dDepartment of Pediatrics, University of Stanford, and eLucile Packard Foundation for Children’s Health, Palo Alto, Calif., USA

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: August 10, 2006
Accepted: January 12, 2007
Published online: March 28, 2007
Issue release date: October 2007

Number of Print Pages: 7
Number of Figures: 3
Number of Tables: 2

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP

Abstract

Background/Aims: Growth hormone insensitivity (GHI) is characterized by severe short stature, high serum growth hormone (GH), low serum IGF-I and IGFBP-3 levels and is classically associated with genetic defects of the GH receptor (GHR). Recently, mutations of the STAT5b gene have been identified and shown to be associated with GHI and severe IGF deficiency. We investigated 2 sisters from a consanguineous family from Kuwait, with clinical and biochemical features of GHI, in whom no molecular defects in the GHR were identified. Methods: Serum and DNA were analyzed. Results: In addition to GHI, siblings 2 and 1 presented with, respectively, a diagnosis of juvenile idiopathic arthritis and recurrent pulmonary infections. Molecular analysis of the STAT5b gene revealed a novel homozygous deletion of a G at the junction of exon 13-intron 13. The parents, who are of normal height, were heterozygous for the mutation. Conclusions: This is the first STAT5b defect to be identified in siblings, further supporting the autosomal recessive mode of transmission of STAT5b deficiency. The results affirm that defective STAT5b is an etiology for IGF deficiency and the GHI phenotype, and emphasize the importance of considering this diagnosis in patients with IGF deficiency, especially when associated with diverse immunological problems.

© 2007 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: August 10, 2006
Accepted: January 12, 2007
Published online: March 28, 2007
Issue release date: October 2007

Number of Print Pages: 7
Number of Figures: 3
Number of Tables: 2

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP


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