ESPE Abstracts (2023) 97 P2-138

ESPE2023 Poster Category 2 GH and IGFs (15 abstracts)

Growth hormone deficiency and Glycogen storage disease type 0 in a girl with short stature and hypoglycemia: a case report

omneya Magdy Omar , Reham Adel Haleem Abo Elwafa & Aml A Mahfouz

Alexandria, Alexandria, Egypt

Introduction: Glycogen storage disease (GSD) type 0 and growth hormone (GH) deficiency cause ketotic hypoglycemia via diverse mechanisms and are not known to be associated

Case Report: 10 years old girl presented with recurrent fasting ketotic hypoglycemia, with short stature (HSD: - 4 SDS), with Tanner stage 1, golden sample revealed glucose 42 mg /dL, low insulin and low GH, cortisol and free thyroxine levels were normal. GH peak was 1.6 ng/ml after clonidine stimulation and 6.38 ng/ml after L- Dopa stimulation. The patient started growth hormone therapy. Antibodies for celiac disease were negative. The hypoglycemic attacks recurred. The ultrasound abdomen revealed mild hepatomegaly with increased echogenicity. Liver enzymes started to increase. The lipid profile was normal. A liver biopsy revealed steatosis. Although the genetic test WES detected a nonpathogenic mutation gene for glycogen storage disease type 0a. The patient was fed six times a day, with a low glycemic index and advised to avoid fasting. Liver enzymes were improved.

Conclusions: children with hypoglycemia need to be carefully evaluated because it could be a multifaceted problem. The right diagnosis may lead to fewer occurrences of hypoglycemia GSD type 0 should be taken into consideration in patients with fasting ketotic hypoglycemia.

Volume 97

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

European Society for Paediatric Endocrinology 

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