ECE2009 Poster Presentations Paediatric Endocrinology (18 abstracts)
Influence of the exon 3: deleted polymorphism of the GH receptor on glucose and lipid metabolism in GH treated subjects with GH deficiency: results of a preliminary study
Michela Baiocchi 1 , Chiara Donati 1 , Mara Maselli 3 , Patrizia Mella 2 , Elena Prandi 1 , Alba Pilotta 1 , Giorgio Radetti 3 & Fabio Buzi 1
1Auxoendocrinologia, Clinica Pediatrica, University of Brescia, Brescia, Italy; 2Istituto di Medicina Molecolare A. Nocivelli, University of Brescia, Brescia, Italy; 3Department of Paediatrics, Regional Hospital, Bolzano, Italy.
GH has contra-insulin actions and exogenous GH can reversibly reduce insulin sensitivity in patients treated with GH. It has been recently reported that the exon 3 – deleted (d3) isoform of the GH receptor (GHR) appears to be preventive for type 2 diabetes mellitus in adult subjects (GH&IGF Res 2007;17:392). Aim of this study was to investigate possible influences of the GHR-d3 polymorohism on glucose metabolism, lipid profile and BMI in children treated with GH for GH deficiency (GHD). We studied 26 GHD subjects (12 male). Mean age (S.D.) was 20.3 (1.0) years. All had been treated with GH at a mean dose of 0.33 mg/kg per week until final height for 3 to 6 years. Patients’ genotype at GHR-exon 3 locus was determined by simple multiplex PCR. Fasting glucose, insulin, total and HDL-cholesterol, triglycerides, oral glucose tolerance test (OGTT), QUICKI and HOMA-R indexes, systolic and diastolic blood pressure were evaluated at treatment start, each year during treatment and at the end of it. The study protocol was approved by the local Ethical Committee and informed consent was obtained from the subjects and/or subjects’ parents where appropriate. The full-length (fl) GHR exon 3 polymorphism was found in 13 subjects in homozygosity (group fl); d3 was found in 11 subjects in heterozygosity and in 2 in homozygosity (group d3). No differences in the above mentioned parameters were found comparing the two groups at treatment start, during and at the end of treatment. Furthermore, final height (SDS) did not differ between the two groups. On the basis of these preliminary data, d3 does not seem to influence glucose and fat metabolism during GH treatment in GHD subjects.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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