ESPE Abstracts

Introduction: Hypoglycemia can be caused by inherited metabolic disorders, but sometimes hypopituitarism causes hypoglycemia separately or in combination with other health problems. It is important to diagnose the medical problem and start the treatment to avoid hypoglycemia complications.

Case report: 5 years old male patient with recurrent fasting ketotic hypoglycemia, post-prandial hyperglycemia, with short stature, was admitted to Diabetology Department for further investigations. Measurements: Height 102 cm, <3pc, HSDS -2,28 SD; body mass 19kg, 75pc, BMI 18,26 kg/m2, 90pc. The patient's bone age was delayed (BA: 3 year and 6 months). Tanner stage 1, testes in scrotum 2ml. OGTT with lactate was performed. Fasting hypoglycemia 42mg%, fasting normal lactate, hyperglycemia 216mg% in the 2nd hour after glucose, and a considerable increase in lactate 8,5 nmol/l were found. HbA1c 4,9%. Cortisol and free thyroxine levels were normal. Total cholesterol, LDL-cholesterol, and triglycerides were elevated. There was no organomegaly. Antibodies for celiac disease and diabetes type 1 were negative. The glucagon test revealed a double increase in glucose levels, GH peak was 6,86 ng/ml. Spontaneous nocturnal GH test was abnormal –GH peak 3,38ng/ml. Clonidine test stimulated GH to 8,73ng/ml. MRI revealed a cavity of the pituitary intermediate layer, not requiring surgery. Genetic test NGS detected pathogenic double heterozygous mutation in the GYS2 gene, which confirms Glycogen storage disease type 0a. The patient was fed 6 times a day, with a low glycemic index, and low-fat meals. Fasting glucose levels in capillary blood after dietary intervention were in the range of 42-70mg%. Because of somatropin deficiency, the patient started growth hormone therapy. OGTT was performed once more before treatment – fasting glucose was 37mg%, in the 2nd hour 181mg% (glucose intolerance). The rGH treatment was well tolerated all the time, no side effects were reported, fasting glucose levels in capillary blood were 59-80mg%, HbA1c 5,1%; LDL-cholesterol and total cholesterol decreased. After one year of treatment height improved upto 113 cm (HSDS -1,73). OGTT did not reveal deteriorated glucose levels -in the 2nd hour glucose level was 173mg%; fasting blood glucose was 58mg% - slightly improved.

Conclusions: Patients with hypoglycemia need to be carefully diagnosed because it could be a complex problem. The right diagnosis may lead to fewer incidents of hypoglycemia and better quality of life. Hepatic glycogen synthase deficiency should be taken into consideration in patients with fasting ketotic hypoglycemia and post-prandial hyperglycemia.