Effect of growth hormone treatment on hypoglycemia in a patient with both hepatic glycogen synthase and isolated growth hormone deficiencies

A 7 year-old boy presenting with growth retardation, fasting hypoglycemia a nd ketoacidosis was diagnosed as having both idiopathic growth hormone (GH) deficiency and hepatic glycogen synthase (GS) deficiency caused by a homoz ygous mutation in exon 5 of the liver glycogen synthase gene (GYS-2). After four years of treatment with recombinant human GH, height increased from - 4.9 SDS to -2.05 SDS which is near his target height of -1.6 SDS. The GH tr eatment, however, did not prevent the fasting hypoglycemia. Blood glucose l evels were only normalized after avoiding fasting intervals of more than fi ve hours and the frequent feeding of protein-rich meals according to the gu idelines for treatment of hepatic GS deficiency.