Hyperthyroidism and Down Syndrome: a present diagnosis
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Keywords

Down's Syndrome
Hyperthyroidism
Genetic
Endocrinology
Chromosome Disorders
Thyroid Hormons
Down Syndrome

How to Cite

1.
Eyzaguirre C. F, Unanue M. N, Mericq G. V. Hyperthyroidism and Down Syndrome: a present diagnosis. Andes pediatr [Internet]. 2008 Jul. 20 [cited 2025 Oct. 21];79(3):290-4. Available from: https://andespediatrica.cl/index.php/rchped/article/view/2431

Abstract

A  female patient with Down Syndrome and without cardiac defects. During infancy, she had low weight increment secondary to repeated hospital admissions due to obstructive respiratory tract episodes. In addition, she attends regularly to the gastroenterology clinic due to intermittent diarrhea. At the age of 9.4 years-old, she presented liquid stools 5-6 times/day, associated to a decrease of 7 kg in 5 months and marked hyperactivity. She is admitted with tachycardia, arterial hypertension and high liver enzymes (SGOT = 63 U/1 and SGPT = 97U/1). The ECG showed sinus tachycardia. She is discharged without etiological diagnosis. In the mean time, annual thyroid function requested for endocrinology control showed TSH < 0,1 uUI/ml, T3 = 482 ng/dl and total T4 = 15,4 ug/dl, evidencing clear hyperthyroidism and beginning therapy with propylthiouracil 10 mg/kg/day and propanolol 1,3 mg/kg/day. After 3 weeks, the patient showed less hyperactivity, normal stools, normal sleep-awake cycle and recovered weight. By 6 weeks, thyroid hormones and transaminases were within normal ranges.
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