The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b.

Abstract

OBJECTIVES:

To investigate the growth hormone (GH)-insulin-like growth factor (IGF) system in patients with glycogen storage disease type 1 (GSD1).

STUDY DESIGN:

This was a prospective, case-control study. Ten patients with GSD1a and 7 patients with GSD1b who were given dietary treatment and 34 sex-, age-, body mass index-, and pubertal stage-matched control subjects entered the study. Auxological parameters were correlated with circulating GH, either at basal or after growth hormone releasing hormone plus arginine test, insulin-like growth factors (IGF-I and IGF-II), and anti-pituitary antibodies (APA).

RESULTS:

Short stature was detected in 10.0% of patients with GSD1a, 42.9% of patients with GSD1b (P = .02), and none of the control subjects. Serum IGF-I levels were lower in patients with GSD1b (P = .0001). An impaired GH secretion was found in 40% of patients with GSD1a (P = .008), 57.1% of patients with GSD1b (P = .006), and none of the control subjects. Short stature was demonstrated in 3 of 4 patients with GSD1b and GH deficiency. The prevalence of APA was significantly higher in patients with GSD1b than in patients with GSD1a (P = .02) and control subjects (P = .03). The GH response to the provocative test inversely correlated with the presence of APA (P = .003). Compared with levels in control subjects, serum IGF-II and insulin levels were higher in both groups of patients, in whom IGF-II levels directly correlated with height SD scores (P = .003).

CONCLUSION:

Patients with GSD1a have an impaired GH secretion associated with reference range serum IGF-I levels and normal stature, whereas in patients with GSD1b, the impaired GH secretion, probably because of the presence of APA, was associated with reduced IGF-I levels and increased prevalence of short stature. The increased IGF-II levels, probably caused by increased insulin levels, in patients with GSD1 are presumably responsible for the improved growth pattern observed in patients receiving strict dietary treatment.

• Authors: Daniela Melis, Rosario Pivonello, Giancarlo Parenti, Roberto Della Casa, Mariacarolina Salerno, Francesca Balivo, Pasquale Piccolo, Carolina Di Somma, Annamaria Colao, Generoso Andria
• Journal: The Journal of pediatrics (J Pediatr) Vol. 156 Issue 4 Pg. 663-70.e1 (Apr 2010) ISSN: 1097-6833 [Electronic] United States
• PMID: 20022338 (Publication Type: Comparative Study, Journal Article)
• Copyright: Copyright 2010 Mosby, Inc. All rights reserved.

Chemical References

• Biomarkers
• Somatomedins
• Growth Hormone

Topics

• Adolescent
• Biomarkers (blood)
• Body Height (physiology)
• Body Mass Index
• Case-Control Studies
• Child
• Cross-Sectional Studies
• Enzyme-Linked Immunosorbent Assay
• Female
• Follow-Up Studies
• Glycogen Storage Disease Type I (blood, complications, physiopathology)
• Growth Disorders (epidemiology, etiology, physiopathology)
• Growth Hormone (blood)
• Humans
• Immunoradiometric Assay
• Italy (epidemiology)
• Male
• Prevalence
• Prognosis
• Prospective Studies
• Risk Factors
• Somatomedins (metabolism)
• Time Factors
• Young Adult