A rare syndrome: thyroid hormone resistance

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.

Tiroid hormon direnci: nadir bir sendrom

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.

___

  • 1. 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.
  • 2. Refetoff S, Dumitrescu AM . Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab 2007;21:277-305.
  • 3. 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.
  • 4. Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocr 1967;27:279-94.
  • 5. Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocrine Reviews 1993;14:348-99.
  • 6. Snyder D, Sesser D, Skeels M, Nelson G, LaFranchi S. Thyroid disorders in newborn infants with elevated screening T4. Thyroid abstract 7, suppl 1997;1:S-29.
  • 7. Beck-Pecooz P & Chatterjee VKK. The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid 1994;4 (2):225-232.
  • 8. Weiss R, Refetoff S. Resistance to thyroid hormone. Rev Endocr Metab Disord 2000;1(2):97-108.
  • 9. Collingwood TN, Wagner R, Matthews CH, et al. A role for helix 3 of the TR beta ligand-binding domain in co-activator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone. EMBO J 1998;17(12):4760-70.
  • 10. Kaplan MM, Swartz SL and Larsen PR. Partial peripheral resistance to thyroid hormone. Am J Med 1981;70(11):1115- 1121.
  • 11. Chatterjee VKK, Beck-Peccoz P. Thyroid homone resistance. Bailliere’s Clinical Endocrinology and Metabolism 1994;8:267-283.
  • 12. 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.
  • 13. Beck-Pecooz P, Chatterjee VKK. The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid 1994;4:225-32.
  • 14. 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.
  • 15. Mitchell CS, Savage DB, Dufour S, et al. Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia. J Clin Invest 2010; 120(4):1345-54.
  • 16. Chatterjee VK. Resistance to thyroid hormone, and peroxisome- proliferator-activated receptor gamma resistance. Biochem Soc Trans 2001;29:227-31.
  • 17. Refetoff S, Dumitrescu AM. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab 2007;21:277-305.
  • 18. Kale Köroğlu B, Mamanasiry S, Küçük A, Tamer MN, Yılmaz R, Refetoff S. Resistance to thyroid hormone: Probable de novo mutation (P453S) in the receptor beta gene. Turk J Endocrinol Metabol 2009; 13(3):43-6.
Dicle Tıp Dergisi-Cover
  • ISSN: 1300-2945
  • Yayın Aralığı: Yılda 4 Sayı
  • Başlangıç: 1963
  • Yayıncı: Cahfer GÜLOĞLU
Sayıdaki Diğer Makaleler

Üriner sistem infeksiyonlarından izole edilen Escherichia coli suşlarına fosfomisin trometamolün ve bazı antibiyotiklerin in-vitro etkinliği

Özcan DEVECİ, Erkan YULA, Türkan ÖZER TOKA, Alicem TEKİN

Mesanenin ürotelyal karsinomları üzerine epidemiyolojik bir çalışma

Ayşenur KELEŞ, İpek GÖNÜL IŞIK, Uğur FIRAT, Mehmet KÜÇÜKÖNER

In-vitro activity of fosfomycin trometamol and some other antibiotics against Escherichia coli strains isolated from urinary tract infections

Özcan DEVECİ, Erkan YULA, Türkan Toka ÖZER, Alicem TEKİN

Hastaların koroner anjiyografi hakkındaki bilgi düzeyleri ve beklentileri

Ömer ŞATIROĞLU, Mutlu VURAL, Mehmet BOSTAN, Engin BOZKURT

Metabolik sendromlu hastalarda düzeltilmiş Qt süresi

Fatma PAKSOY, Turgay ULAŞ, Cemal BES, Mehmet Sinan DAL, Fatih BORLU

Steroide yanıtlı nefrotik sendromlu çocuklarda tedavi yaklaşımları

Süleyman KALMAN

Dev üst mezenter arter anevrizması

Ahmet TEMİZ, Mehmet BOSTAN, Ömer ŞATIROĞLU, Mustafa ÇETİN, Engin BOZKURT

Bir mesleki eğitim merkezi öğrencilerinde umutsuzluk düzeyi ve etkileyen faktörler

Süleyman Erhan DEVECİ, Nilgün ULUTAŞDEMİR, Yasemin AÇIK

Yetişkin Türk toplumunda ağız yanması sendromu prevalansı

Hakan ÇOLAK, Yusuf BAYRAKTAR, Mehmet Mustafa HAMİDİ, Recep UZGUR, İsmet Rezani TOPTANCI, Mehmet DALLI

Antimicrobial activity of galls of Quercus infectoria

Fırat Zafer MENGELOĞLU, Umre METİN, Nesibe ÖZDEMİR, M. Kadir ODUNCU