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Original Paper

Growth Hormone Stimulation Tests in Children with Kabuki Syndrome

Schott D.A.a · Gerver W.J.M.b · Stumpel C.T.R.M.b, c

Author affiliations

aDepartment of Paediatrics, Zuyderland Medical Centre, Heerlen, and bDepartment of Paediatric Endocrinology and cDepartment of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Centre, Maastricht, The Netherlands

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Horm Res Paediatr 2016;86:319-324

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: May 02, 2016
Accepted: August 17, 2016
Published online: September 21, 2016
Issue release date: December 2016

Number of Print Pages: 6
Number of Figures: 3
Number of Tables: 2

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

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

Abstract

Background/Aims: Kabuki syndrome is a multiple congenital malformation syndrome with a variety of clinical features including short stature. The cause of this postnatal short stature remains unknown. Methods: Eighteen children with genetically proven Kabuki syndrome (8 boys and 10 girls; ages 3.3-9.9 years, with a mean of 6.7 years) who underwent growth hormone (GH) stimulation tests were evaluated in a prospective study. Two GH stimulation tests were conducted, including insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3) serum levels. GH stimulation peaks in relation to age, sex, height, body mass index (BMI), IGF-I, and IGFBP-3 SD scores (SDS) were analyzed. Results: Five of the 18 children (27.8%) were biochemically GH deficient. This was not correlated with BMI SDS. Of all patients, only 1 had an IGF-I below -2 SD and did not fulfill the GH deficiency criteria. The mean IGF-I level was below normal (-0.8 SD). All subjects had normal IGFBP-3 levels. Conclusions: The utility of performing GH stimulation tests on Kabuki syndrome children as an indication of GH status in short stature is questionable. IGF-I levels did correlate neither with the GH stimulation peak nor consequently with the diagnosis of GH deficiency.

© 2016 S. Karger AG, Basel


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    External Resources
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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: May 02, 2016
Accepted: August 17, 2016
Published online: September 21, 2016
Issue release date: December 2016

Number of Print Pages: 6
Number of Figures: 3
Number of Tables: 2

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

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


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