Abstract
Two boys, 7 and 9 yrs, and a girl, 11 yrs, presented with goiters and hyperthyroxinemia. The boys were treated with PTU/thyroidectomy or I131 for suspected thyrotoxicosis, but had poorly suppressible serum TSH post Rx. The girl had increasing goiter size on PTU 100 mg q 8 h x 1 mo. These findings led to re-evaluation of thyroid hormone dynamics in these patients and their families. The diagnosis of partial peripheral and pituitary resistance to thyroid hormone was made in the 3 index cases and 12 additional family members, ages 3-38 yrs, compatible with an autosomal dominant inheritance. All had elevated serum T4 RIA (13.9-25.8μg/dl), T3 RIA (205-396 ng/dl), and non-suppressed serum TSH (1.5-158 μU/ml). T3 resin uptakes were N→sl↑. Reverse T3, free T4 and 24h I131 uptakes were ↑ in 6/6. Goiters were present in 10/11 (4 were post thyroid ablation). TRH (200 μg iv) given to 5 pts (from 3 families) showed exaggerated TSH responses (Δ μU/ml = 26, 31, 32, 34, 268). After incremental doses of L-thyroxine up to 0.3 mg/d, goiter size decreased, and TSH response to TRH was now normal (Δ 13,19 μU/ml) in 2 pts with intact thyroids and still exaggerated (Δ 96 μU/ml) in the pt with I131 Rx. Misdiagnosis in 6/15 members of 3 families has led to significant morbidity (hypothyroidism, delayed growth, Rx risk). Appropriate management for this condition should include L-thyroxine in order to decrease goiter size and normalize TSH responses to TRH. A non-suppressed TSH in a patient with suspected thyrotoxicosis should lead to suspicion of this disorder.
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Hopwood, N., Sauder, S., Shapiro, B. et al. 62 FAMILIAL PARTIAL PERIPHERAL AND PITUITARY RESISTANCE TO THYROID HORMONE - A FREQUENTLY MISSED DIAGNOSIS?. Pediatr Res 19, 613 (1985). https://doi.org/10.1203/00006450-198506000-00082
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DOI: https://doi.org/10.1203/00006450-198506000-00082