ABSTRACT Down’s syndrome has multisystemic manifestations, and thyroid dysfunction is a common endocrine problem in them. Hypothyroidism is commonly seen, but hyperthyroidism is rare, and it usually results from Graves’ disease. This is a case report of a girl showing a rare association between Down’s syndrome and Graves’ disease. A 10-year-old girl presented with Down’s syndrome who initially was euthyroid but had obesity during earlier clinic visits. Her body mass index (BMI) was 27.5 kg/m 2 and >95 th percentile using the Centers for Disease Control and Prevention BMI chart for girls with Down’s syndrome. She later developed progressive weight loss and anterior neck swelling. Her BMI dropped to 15.6 kg/m 2 . The thyroid function test was in keeping with hyperthyroidism. Her neck ultrasound scan revealed a diffuse goiter. Thyroid-stimulating immunoglobulin was elevated: 86.9 IU/L (<0.10), suggesting Graves’ disease. She was initially commenced on carbimazole with L-thyroxin replacement but later changed to carbimazole alone. She achieved an euthyroid state after about 10 months on treatment. We have reported a girl with the rare association between Down’s syndrome and Graves’ disease, and the management was quite challenging. Screening for thyroid disorders, including hyperthyroidism secondary to Graves’ disease, is of clinical relevance in children with Down’s syndrome.
Akeredolu et al. (Fri,) studied this question.