Endocrine Abstracts

Glycogen storage disease type 1 is a rare autosomal recessive disorder. Osteoporosis is one of the long term complications. However factors associated with low bone mass has not fully understood. Metabolic derangements that occur with poor control may contribute to bone disease. Low bone mass could be caused by hypogonadtropic hypogonadism, a unique issue identified in GSD. Herein we report a patient with GSD type 1, osteoporosis and hypogonadotropic hypogonadism. A 20 years o...

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 a...