ABSTRACT
We present a 46-year-old female with hyperthyroidism, orbitopathy and dermopathy who we diagnosed with Grave's disease. Myxoedema is a rare extrathyroidal symptom and is associated with orbitopathy. TSH-receptor expressing fibroblasts lead to by accumulation of subcutaneous glycosaminoglycans, causing the oedema. Often it is self-limiting, but corticosteroid therapy may be required.
Subject(s)
Graves Disease , Hyperthyroidism , Myxedema , Edema/etiology , Female , Graves Disease/complications , Graves Disease/diagnosis , Graves Disease/drug therapy , Humans , Leg , Middle Aged , Myxedema/diagnosisABSTRACT
We hypothesize that abnormal fat distribution, a common feature of PMM2-CDG, is associated with abnormal perinatal hormone regulation. We assessed 32 cases with PMM2-CDG, for the comorbidity of hypoglycemia/hyperinsulinism and fat pads. Ninety percent of patients with hypoketotic hypoglycemia and/or hyperinsulinism had abnormal fat distribution, while normoglycemic patients showed this feature in 50% of the cases. This statistically significant difference suggests an etiological role of the insulin receptor in developing abnormal fat distribution in PMM2-CDG.
