Yasmine Abdellaoui1, Dimitra Magkou2, Sofia Bakopoulou2, Ramona Zaharia2, Marie-Laure Raffin-Sanson2,3, Laure Cazabat2,3. 1. Department of Internal Medicine, Foch Hospital, Suresnes, France. 2. Department of Endocrinology and Nutrition, Ambroise Paré Universitary Hospital, Assistance Publique Hôpitaux de Paris, Boulogne, France. 3. EA 4340, Université Versailles Saint Quentin en Yvelines, UFR Simone Veil Santé, Montigny le Bretonneux, France.
Abstract
INTRODUCTION: Resistance to thyroid hormone beta (RTHβ) is a rare disease with an autosomal dominant transmission. Diagnosis may be challenging especially in patients with hyper- or hypothyroidism. CASE PRESENTATION: A 31-year-old male patient with suppressed thyroid-stimulating hormone (TSH), elevated free thyroxine and free triiodothyronine, along with high thyroid receptor antibodies was diagnosed with Graves' disease. Benzylthiouracil was started. One month later, reduced sensitivity to thyroid hormones was suspected because of persistently high thyroid hormone levels contrasting with high TSH level. Molecular analysis highlighted a 10c.1357C>T p.P453S mutation in the thyroid hormone receptor beta gene (THRB). RTHβ was diagnosed. Several relatives also had RTHβ (the mother, the young son, and 2 out of 3 siblings). Autoimmune hypothyroidism was present in the mother, whereas 2 out of 3 siblings had asymptomatic autoimmunity. DISCUSSION/ CONCLUSION: Both Graves' disease and autoimmune hypothyroidism were described in patients with RTHβ. We show here for the first time that autoimmune hypo- and hyperthyroidism may coexist in kindred with RTHβ. Seven previously published cases of Graves' disease and RTHβ were retrieved and analyzed. Treatments and thyroid hormone level targets are discussed as well as the possible link between RTHβ and autoimmune thyroid diseases.
INTRODUCTION: Resistance to thyroid hormone beta (RTHβ) is a rare disease with an autosomal dominant transmission. Diagnosis may be challenging especially in patients with hyper- or hypothyroidism. CASE PRESENTATION: A 31-year-old male patient with suppressed thyroid-stimulating hormone (TSH), elevated free thyroxine and free triiodothyronine, along with high thyroid receptor antibodies was diagnosed with Graves' disease. Benzylthiouracil was started. One month later, reduced sensitivity to thyroid hormones was suspected because of persistently high thyroid hormone levels contrasting with high TSH level. Molecular analysis highlighted a 10c.1357C>T p.P453S mutation in the thyroid hormone receptor beta gene (THRB). RTHβ was diagnosed. Several relatives also had RTHβ (the mother, the young son, and 2 out of 3 siblings). Autoimmune hypothyroidism was present in the mother, whereas 2 out of 3 siblings had asymptomatic autoimmunity. DISCUSSION/ CONCLUSION: Both Graves' disease and autoimmune hypothyroidism were described in patients with RTHβ. We show here for the first time that autoimmune hypo- and hyperthyroidism may coexist in kindred with RTHβ. Seven previously published cases of Graves' disease and RTHβ were retrieved and analyzed. Treatments and thyroid hormone level targets are discussed as well as the possible link between RTHβ and autoimmune thyroid diseases.
Authors: Ana María Ramos-Leví; José Carlos Moreno; Cristina Álvarez-Escolá; Nerea Lacámara; Maria Carmen Montañez Journal: Endocrinol Nutr Date: 2016-01-16
Authors: Samuel Refetoff; J H Duncan Bassett; Paolo Beck-Peccoz; Juan Bernal; Gregory Brent; Krishna Chatterjee; Leslie J De Groot; Alexandra M Dumitrescu; J Larry Jameson; Peter A Kopp; Yoshiharu Murata; Luca Persani; Jacques Samarut; Roy E Weiss; Graham R Williams; Paul M Yen Journal: Eur Thyroid J Date: 2014-03-04