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1 A Case Report of Refetoff's Syndrome Jun SASAKI, Takashi TADA and Kazuyoshi First Department of Surgery, Iwate Medical University, Morioka, Japan SAITO Hideo KURIHARA Kurihara Thyroid Clinic, Morioka, Japan Summary An 11-year-old girl with diffuse goiter is presented. She had no clinical evidence of thyrotoxic symptoms or signs of palpitation, excessive sweating, tachycardia or finger tremor. Both the serum T4 (24.012g/d1) and T3 (282ng/d1)were high, and thyroid 131 I uptake rate (63.2%) was significantly elevated, but T3/T4 ratio was not elevated (11.8). BMR was measured three times and remained within normal limits. Her serum TSH was 1.9/1U/ml, and a TRH stimulation test resulted in a normal rise of serum TSH (13.4AU/m1). The TSH secretion was not suppressed by medication (p.o.) of 75/ig of L-triiodothyronine given for 8 days. The autoantibodies of T49 T3 and TSH were negative. No sign of pituitary tumor was observed by plain X-ray film. No defect in hersight-field was found. From these clinical figures and data, Refetoff's syndrome wassuspected. She was eumetabolic without any treatment, but the goiter gradually enlarged and dysphagia developed. A large dose of L-thyroxine (450/1g/day) was given for a period of one year and four months. She has been eumetabolic. Her goiter disappeared and the dysphagia completely subsided. After she was given large doses of L-T4, her serum TSH was reduced to 0.07µU/ml and was slightly elevated to U/m1 at 30 min after i.v. infusion of 500pg TRH. Thyroid 123I uptake rate was suppressed to8.3%. According to Refetoff's papers, this case was classified as being in the group with generalized resistance to thyroid hormone.
2 Photo 1. Portrait
3 Fig scintigram
4 Photo 2. Barium stagnation was recognized by esophagogram.
5 Fig. 2. Change of goiter size, serum T4, T3, TSH levels and BMR after treatment.
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7 1) Bernal, J., Refetoff and L.J. DeGroot: Abnormalities of triiodothyronine binding to lymphocyte and fibroblast nuclei from a patient with peripheral resistance to thyroid hormone action. J. Clin. Endocrinol. Metab., 47: , ) Refetoff, S.: Syndrom of thyroid hormone resistance. Am. J. Phys., 243: E88 E98, ) Refetoff, S., L.T. DeWind and L.J. DeGroot: Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J. Clin. Endocrinol. Metab., 27: , ) Agerbaek, H.: Congenital goiter presumably resulting from tissue resistance to thyroid hormone (Abstract). Isr. J. Med. Sci., 8: , ) Lamberg, B.-A.: Congenital euthyroid goiter and partial peripheral resistance to thyroid hormones. Lancet, 1: , ) Bode, H.H., M. Danon, B.D. Weintraub, F. Maloff and J.D. Crawford: Partial target organ resistance to thyroid hormone. J. Clin. Invest., 52: , ) Schneider, G., H.R. Keiser and C.W. Bardin: Peripheral resistance to thyroxine: a cause of short stature in a boy without goiter. Clin. Endocrinol., 4: , ) Lakka-Papadodima, E., A. Souvatzoglon, P.G. Pandos, J. Alivisatos and D.A. Koutras: Two cases of peripheral tissue resistance to thyroxine of different mechanism (Abstract). Ann. Endocrinol. Paris 38, Suppl.: 17A, ) Lamberg, B.-A., S. Rosengard, K. Liwendahl, P. Saarinen and D.C. Evered: Familial partial peripheral resistance to thyroid hormones. Acta Endocrinol. Copenhagen, 87: , ) Sato, T., Saida, K., Suzuki, Y., Takata, I. and Ishiguro, K.: A case of the syndrome of appropriate secretion of TSH. Endocrinol. JAPAN 26: , ) Maxon, H.R., Burman, K.D. and Premachandra, B.N.: Euthyroid familial hyperthyroxinemia. N. Engl. J. Med., 302: 1263, ) Maenp
8 J. and K. Liewendahl: Peripheral insensitivity to thyroid hormones in a euthyroid girl with goiter. Arch. Dis. Child., 55: , ) Brooks, M.H., A.T. Barbato, S. Collins, J. Garbincius, R.G. Neidballas and D. Hoffman: Familial thyroid hormone resistance. Am. J. Med., 71: , ) Elewaut, A., A. DeBaets and A. Vermeulen: Triiodothyronine binding to lymphocyte nuclei and plasma cyclic AMP response to intravenous glucagon in patients with peripheral resistance to thyroid hormones. Acta Endocrinol. Copenhagen, 97: 54-59, Ercole and R.D. Utiger; Peripheral 15) Kaplowitz, P.B., A.J.D. resistance to thyroid hormone in an infant. J. Clin.
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