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PEDIATRICS Vol. 104 No. 2 August 1999, pp. 312-314

EXPERIENCE AND REASON:
Persistent Infantile Hypothyroidism Attributable to Thyroxine-Binding Globulin Deficiency

Received Nov 2, 1998; accepted Mar 1, 1999.

Aaron L. Carrel and David B. Allen

Department of Pediatrics University of Wisconsin Children's Hospital Madison, WI 53792

An infant diagnosed with thyroid-binding globulin (TBG) deficiency after newborn screening demonstrated persistent elevation of thyroid-stimulating hormone (TSH) and abnormally low free thyroxine (fT4) levels. Treatment with thyroxine (T4) normalized fT4 and TSH levels during the first 5 years of life, but withdrawal of T4 supplementation at that time was associated with return of hyperthyrotropinemic hypothyroidism. To our knowledge, this patient is the first reported case of TBG deficiency-associated hypothyroidism. In rare instances, TBG deficiency may lead to hypothyroidism requiring hormone supplementation.

 Key words:  thyroxine-binding globulin deficiency, hypothyroidism.




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