A rare syndrome: Thyroid hormone resistance

Yıl 2011, Cilt: 38 Sayı: 3, 345 - 348, 01.09.2011

Yunus İlyas Kibar Şenay Arıkan Ayşe Çarlıoğlu Yasin Öztürk Ahmet Tay Mehmet Emin Ayhan

https://doi.org/10.5798/diclemedj.0921.2011.03.0046

Öz

Resistance to thyroid hormone syndrome (RTH) is a rare disorder, usually inherited as an autosomal dominant trait. Patients with RTH are usually euthyroid but can occasion­ally present with signs and symptoms of thyrotoxicosis or rarely with hypothyroidism. We present a patient with in­teresting syndrome as RTH but no family history. Goiter, increased weight gain and normal mental status were ob­served despite high serum thyroid hormones and normal TSH levels.

Anahtar Kelimeler

Thyroid hormone resistance, obesity, goiter

Tiroid hormon direnci: Nadir bir sendrom

Öz

Tiroid hormon direnci sendromu (RTH) genellikle otozomal dominant kalitim gösteren nadir bir hastalıktır. Tiroid hormon direnci olan hastalar genellikle ötiroid olurlar fakat nadir de olsa tirotoksikoz veya hipotiroidizm belirti ve bulguları ile seyredilebilir. Biz bu yazıda ilginç bir sendrom olarak tiroid hormon direnci olan fakat aile öyküsü olmayan bir olgu sunulmaktadır. Olgumuzda yüksek serum tiroid hormon düzeyleri ve normal TSH düzeylerine rağmen guatr, kilo alımında artış ve normal zeka durumu gözlendi

Anahtar Kelimeler

Tiroid hormon direnci, obezite, guatr

Kaynakça

• Berker D, Aydin Y, Tutuncu YA, Isik S, Delibasi T, Berker M, Guler S, Kamel N. Somatotropin adenoma and resistance to thyroid hormone. J Endocrinol Invest 2009;32(3):284-6.
• Refetoff S, Dumitrescu AM . Syndromes of reduced sensitiv- ity to thyroid hormone: genetic defects in hormone recep- tors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab 2007;21:277-305.
• Wong GWK, Shek CC, Lam STS, Tsui MKM, Leung SSF. Detection of resistance to thyroid hormone by cord blood screening. Acta Pediatr 1995;84:335-6.
• Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and ab- normally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocr 1967;27:279-94.
• Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocrine Reviews 1993;14:348-99.
• Snyder D, Sesser D, Skeels M, Nelson G, LaFranchi S. Thy- roid disorders in newborn infants with elevated screening T4. Thyroid abstract 7, suppl 1997;1:S-29.
• Beck-Pecooz P & Chatterjee VKK. The variable clinical phe- notype in thyroid hormone resistance syndrome. Thyroid 1994;4 (2):225-232.
• Weiss R, Refetoff S. Resistance to thyroid hormone. Rev En- docr Metab Disord 2000;1(2):97-108.
• Collingwood TN, Wagner R, Matthews CH, et al. A role for helix 3 of the TR beta ligand-binding domain in co-activa- tor recruitment identified by characterization of a third clus- ter of mutations in resistance to thyroid hormone. EMBO J 1998;17(12):4760-70.
• Kaplan MM, Swartz SL and Larsen PR. Partial peripheral resistance to thyroid hormone. Am J Med 1981;70(11):1115- 1121.
• Chatterjee VKK, Beck-Peccoz P. Thyroid homone resis- tance. Bailliere’s Clinical Endocrinology and Metabolism 1994;8:267-283.
• Brucker-Davis F, Skarulis MC, Grace MB, Benichou J, Hauser P, Wiggs E et al. Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health prospective study. Annals of Internal Medicine 1995;123:572-83.
• Beck-Pecooz P, Chatterjee VKK. The variable clinical phe- notype in thyroid hormone resistance syndrome. Thyroid 1994;4:225-32.
• Kahaly G, Matthews C, Mohr-Kahaly S, Richards CA, Chatterjee VKK. Cardiac involvement in thyroid hormone resistance. J Clin Endocrinol Metabolism 2002;87:204-12.
• Mitchell CS, Savage DB, Dufour S, et al. Resistance to thy- roid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia. J Clin Invest 2010; 120(4):1345-54.
• Chatterjee VK. Resistance to thyroid hormone, and perox- isome-proliferator-activated receptor gamma resistance. Biochem Soc Trans 2001;29:227-31.
• Refetoff S, Dumitrescu AM. Syndromes of reduced sensi- tivity to thyroid hormone: genetic defects in hormone re- ceptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab 2007;21:277-305.
• Kale Köroğlu B, Mamanasiry S, Küçük A, Tamer MN, Yılmaz R, Refetoff S. Resistance to thyroid hormone: Prob- able de novo mutation (P453S) in the receptor beta gene. Turk J Endocrinol Metabol 2009; 13(3):43-6.