2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Use of Growth Hormone in a Patient with Glycogen Storage Disease Ia: A Cautionary Tale<u> </u>

Pdf Summary

This case report discusses a female patient with Glycogen Storage Disease Ia (GSD Ia) who exhibited short stature and suspected growth hormone (GH) deficiency. The patient received GH injections from ages 12-14, but developed hepatocellular adenomas (HCA) approximately 2 years after starting GH therapy. GSD Ia is caused by pathogenic variants in the G6PC gene, resulting in a deficiency of glucose-6-phosphatase, which impairs gluconeogenesis and glycogenolysis. Symptoms of GSD Ia include fasting hypoglycemia, lactic acidosis, hypertriglyceridemia, and hepatomegaly. Short stature, potentially due to GH deficiency, is common in GSD Ia patients. However, caution must be exercised when using GH therapy in these patients, as it may increase the risk of developing HCAs. The literature on GH use in patients with GSD Ia and other hepatic GSDs is limited, and better understanding is needed. The patient in this case report underwent several imaging studies that showed progressive hepatomegaly and the development of multiple HCAs. GH therapy was discontinued at age 14. At age 26.7, the patient underwent orthotopic liver transplantation. Overall, this case report highlights the potential risks of GH therapy in GSD Ia patients and the need for further research in this area.

Asset Subtitle

Presenting Author - David G. Jackson, MD, PhD; Co-Author - Rebecca L. Koch, PhD, RDN, LDN; Co-Author - Priya Kishnani, MD;

Meta Tag

Biochemical genetics

Clinical History

Gastrointestinal System

Metabolic Disorder

Oncogenesis

Co-Author Rebecca L. Koch, PhD, RDN, LDN

Co-Author Priya Kishnani, MD

Presenting Author David G. Jackson, MD, PhD

Keywords

Glycogen Storage Disease Ia

GSD Ia

growth hormone deficiency

hepatocellular adenomas

glucose-6-phosphatase deficiency

hypoglycemia

lactic acidosis

hypertriglyceridemia

hepatomegaly

GH therapy