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Growth Hormone Stimulation Tests in Children with Kabuki Syndrome
Dina A Schott1, Willem J M Gerver, Constance T R M Stumpel
1Department of Paediatrics, Zuyderland Medical Centre, Heerlen, The Netherlands.
Insights
Growth hormone (GH) stimulation tests may not be reliable for assessing short stature in children with Kabuki syndrome. Insulin-like growth factor I (IGF-I) levels did not correlate with GH deficiency diagnosis.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Congenital Malformation Syndromes
Background:
- Kabuki syndrome is a genetic disorder characterized by multiple congenital malformations.
- Short stature is a common clinical feature in Kabuki syndrome, but its underlying cause is not well understood.
Purpose of the Study:
- To investigate the utility of growth hormone (GH) stimulation tests in evaluating short stature in children with Kabuki syndrome.
- To determine the correlation between GH stimulation peaks, insulin-like growth factor I (IGF-I), and IGF-binding protein 3 (IGFBP-3) levels in these patients.
Main Methods:
- A prospective study evaluated 18 children (8 boys, 10 girls) with genetically confirmed Kabuki syndrome.
- Two GH stimulation tests were performed, measuring serum IGF-I and IGFBP-3 levels.
- GH stimulation peaks were analyzed in relation to age, sex, height, BMI, and IGF-I/IGFBP-3 SDS.
Main Results:
- Five out of 18 children (27.8%) showed biochemical GH deficiency, not correlated with BMI SDS.
- Only one patient had IGF-I below -2 SD, not meeting GH deficiency criteria.
- Mean IGF-I levels were below normal (-0.8 SD), while IGFBP-3 levels were normal in all subjects.
Conclusions:
- The diagnostic value of GH stimulation tests for assessing GH status in short stature associated with Kabuki syndrome is questionable.
- IGF-I levels did not correlate with GH stimulation peaks or the diagnosis of GH deficiency in this cohort.
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.
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