Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy

Abstract

Glycogen storage disease Ia (GSD Ia), also known as von Gierke disease, is caused by pathogenic variants in the G6PC1 gene (OMIM 232200) which encodes glucose-6-phosphatase. Deficiency of glucose-6-phosphatase impairs the processes of gluconeogenesis and glycogenolysis by preventing conversion of glucose-6-phosphate to glucose. Clinical features include fasting hypoglycemia, lactic acidosis, hypertriglyceridemia, hyperuricemia, hepatomegaly, and development of hepatocellular adenomas (HCAs) with potential for malignant transformation. Additionally, patients with GSD Ia often exhibit short stature, in some instances due to growth hormone (GH) deficiency. Patients with short stature caused by GH deficiency typically receive GH injections. Here, we review the literature and describe a female with GSD Ia who had short stature, failure of growth progression, and suspected GH deficiency. This patient received GH injections from ages 11 to 14 years under careful monitoring of an endocrinologist and developed HCAs during that time. To date, there is no reported long-term follow up data on patients with GSD Ia who have received GH therapy, and therefore the clinical outcomes post-GH therapy are unclear.

Keywords: glycogen storage disease; glycogen storage disease Ia; growth hormone therapy; hepatocellular adenoma; von Gierke disease.

FIGURE 1

Growth chart for a patient with glycogen storage disease Ia that was treated with growth hormone therapy. See Table 1 for specific height data. Black box around height points indicate when growth hormone therapy was started and stopped, respectively. Mid‐parental target height (MPTH) is noted at 159.77 cm (63 in.). Growth chart for 2–20 years: Girls adapted from the Centers for Disease Control and Prevention.