Endocrine Abstracts

Glycogen storage disease (GSD) type 1 is an autosomal recessive disorder in which there is problem in glucose 6 phosphatase system. Glucose-6-phosphate transport protein deficiency is found in GSD type 1b. There is disorder in glucose metabolism, lack of glucose production in liver. Hypoglycemia, seizures, lactic acidosis, hyperuricemia and hyperlipidemia are some of the components. Affected people may also have short stature, pancytopenia and inflammatory bowel disease. Our aim is to show togetherness of GSD type 1b and autoimmune disorders. Thyroiditis and growth hormone deficiency are some examples of autoimmune disorders, in this case hypothyroidism is detected. A 22 years old woman admitted to our outpatient clinic for evaluation of primary hypothyroidism. She had a history of glycogen storage disease type 1b, Crohn’s disease, rheumatoid arthritis, osteopenia, hyperuricemia and pancytopenia. Current medication is levothyroxine, filgrastim, omega-3 acid esters, allopurinol, adalimumab and glycosade. Her height is 152 cm, weight is 66 kg, hepatomegaly is detected. Her biochemical tests confirmed primary hypothyroidism. Current TSH is 7,63 mU/l, anti-thyroid peroxidase antibody 24,3 IU/ml, anti-thyroglobulin <0,9 IU/ml, uric acid 4,2 mg/dl, ALT 36 U/l, haemoglobin 10,8 g/dl, leucocyte 2780/microliter, trombocyte 105.000/microliter. Levothyroxine initiated on 2021 and dose is titrated to 100 µg in a short time and still needs further titration. Thyroid gland’s parenchyma is heterogeneous but no thyroid nodule is detected on ultrasonography. Levothyroxine replacement was challenging due to difficulties in titration. The dose needed to be increased to 100 µg/day due to possible problems in absorption of the drug from the intestine. Although attention was paid to the timing of consumption of the raw corn starch, there may also have been interaction with levothyroxine. We present our case to underline the challenges of levothyroxine replacement in those patients with glycogen storage disease revealing thyroiditis and hypothyroidism.