PMID: 6410033Aug 1, 1983Paper

Peripheral resistance to thyroid hormone in a family: heterogeneity of clinical presentation

The Journal of Pediatrics
A S PagliaraA C Elston

Abstract

We describe a family with thyroid hormone resistance. Juvenile Graves disease was diagnosed in the propositus, an 8-month-old boy. He was initially given propylthiouracil, and at 22 months of age underwent subtotal thyroidectomy. A diagnosis of hyperthyroidism was made in a younger sister at 3 months of age. Because of the unusual occurrence of juvenile Graves disease in two siblings, we evaluated the parents. The mother was euthyroid on physical examination and by thyroid hormone measurements. The father, although clinically euthyroid, had markedly elevated thyroid hormone values. In the three affected members, serum thyrotropin concentrations and results of thyrotropin-releasing hormone infusion tests were inappropriate for the elevated serum thyroid hormone levels. The father was given increasing doses of triiodothyronine. Complete suppression of TRH-induced TSH release did not occur until a daily dose of 300 micrograms triiodothyronine was administered. Furthermore, this large dose of T3 did not produce clinical evidence of hyperthyroidism or result in changes in his systolic ejection time intervals. This family therefore had the unusual feature of clinical heterogeneity. The two children had mainly pituitary resistance to ...Continue Reading

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Citations

Aug 1, 1989·Acta Paediatrica Japonica; Overseas Edition·T HiranoI Chin
Oct 1, 1995·Thyroid : Official Journal of the American Thyroid Association·K KitajimaJ L Jameson
Jan 1, 1994·Thyroid : Official Journal of the American Thyroid Association·P Beck-Peccoz, V K Chatterjee
Jan 1, 1989·Endocrine Research·S Refetoff
Nov 1, 1985·Scandinavian Journal of Clinical and Laboratory Investigation·J BernalB A Lamberg
Feb 1, 1992·Journal of Endocrinological Investigation·A CrinòP Beck-Peccoz
Jan 1, 1992·Annals of Clinical Biochemistry·D C CrothersD B Ramsden

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