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July 29, 2006

Diagnosis and Symptoms

Question from Port Reading, New Jersey, USA:

My 19 year old daughter has Down Syndrome, alopecia, and hypothyroid (125 mcg Levoxyl once daily). She is 4 feet, 9 inches tall and weighs 185 pounds. She has gained 15 pounds in the last two months. There has been little change in her diet or exercise routine to warrant the weight gain. I took her to the new endocrinologist because she has aged out of the pediatric doctor's care and I thought she might be under-medicated. Her latest thyroid test results are TSH - 0.33; T4 free - 1.2; T3 Total - 145. The doctor said her thyroid medication is fine. However, the doctor thought my daughter might be diabetic so she had a GTT. The results are 80 mg/dl [4.4 mmol/L] fasting; 124 mg/dl [6.9 mmol/L] at one hour; and 66 mg/dl [3.7 mmol/L] at two hours. Her insulin levels were 12.1 fasting; 73 at one hour, and 18 at two hours. What do you think?

Answer:

It sounds like typical Down Syndrome associated obesity from a combination of slow metabolism, excess calories and inadequate daily activity. Thyroid functions are normal and replacement with Levoxyl should continue indefinitely. With further weight gain, she will need sequential thyroid functions and, likely, increased doses unless the weight gain can be stopped. Increased cardiovascular risks obviously also present with this obesity. It does not sound like diabetes. Celiac disease should also be checked since this is more common in Down Syndrome patients with their propensity for autoimmunopathies. Most in my experience are asymptomatic and some have very high transglutaminase antibody titers even without any symptoms.

SB